Canonical Allele Identifier: CA399302243
Community Standard Title: NM_004448.4(ERBB2):c.2186G>C (p.Gly729Ala)
Gene: ERBB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39723638G>C , CM000679.2:g.39723638G>C GRCh38
NC_000017.10:g.37879891G>C , CM000679.1:g.37879891G>C GRCh37
NC_000017.9:g.35133417G>C NCBI36
NG_007503.1:g.40499G>C , LRG_724:g.40499G>C

Transcript Alleles

HGVS Amino-acid Change
NM_004448.4:c.2186G>C MANE Select NP_004439.2:p.Gly729Ala
ENST00000269571.10:c.2186G>C MANE Select ENSP00000269571.4:p.Gly729Ala
NM_001005862.2:c.2096G>C , LRG_724t1:c.2096G>C NP_001005862.1:p.Gly699Ala
NM_001005862.3:c.2096G>C NP_001005862.1:p.Gly699Ala
NM_001289936.1:c.2141G>C , LRG_724t4:c.2141G>C NP_001276865.1:p.Gly714Ala
NM_001289936.2:c.2141G>C NP_001276865.1:p.Gly714Ala
NM_001289937.1:c.2186G>C NP_001276866.1:p.Gly729Ala
NM_001289937.2:c.2186G>C NP_001276866.1:p.Gly729Ala
NM_001382782.1:c.2096G>C NP_001369711.1:p.Gly699Ala
NM_001382783.1:c.2096G>C NP_001369712.1:p.Gly699Ala
NM_001382784.1:c.2303G>C NP_001369713.1:p.Gly768Ala
NM_001382785.1:c.2288G>C NP_001369714.1:p.Gly763Ala
NM_001382786.1:c.2289+14G>C NP_001369715.1:n.2289+14G>C
NM_001382787.1:c.2261G>C NP_001369716.1:p.Gly754Ala
NM_001382788.1:c.2216G>C NP_001369717.1:p.Gly739Ala
NM_001382789.1:c.2207G>C NP_001369718.1:p.Gly736Ala
NM_001382790.1:c.2183G>C NP_001369719.1:p.Gly728Ala
NM_001382791.1:c.2177G>C NP_001369720.1:p.Gly726Ala
NM_001382792.1:c.2172+14G>C NP_001369721.1:n.2172+14G>C
NM_001382793.1:c.2166+20G>C NP_001369722.1:n.2166+20G>C
NM_001382794.1:c.2144G>C NP_001369723.1:p.Gly715Ala
NM_001382795.1:c.2138G>C NP_001369724.1:p.Gly713Ala
NM_001382796.1:c.2186G>C NP_001369725.1:p.Gly729Ala
NM_001382797.1:c.2186G>C NP_001369726.1:p.Gly729Ala
NM_001382798.1:c.2186G>C NP_001369727.1:p.Gly729Ala
NM_001382799.1:c.2006G>C NP_001369728.1:p.Gly669Ala
NM_001382800.1:c.2186G>C NP_001369729.1:p.Gly729Ala
NM_001382801.1:c.2138G>C NP_001369730.1:p.Gly713Ala
NM_001382802.1:c.1928G>C NP_001369731.1:p.Gly643Ala
NM_001382803.1:c.2166+20G>C NP_001369732.1:n.2166+20G>C
NM_001382804.1:c.1358G>C NP_001369733.1:p.Gly453Ala
NM_001382805.1:c.2186G>C NP_001369734.1:p.Gly729Ala
NM_001382806.1:c.1223-326G>C NP_001369735.1:n.1223-326G>C
NM_004448.3:c.2186G>C , LRG_724t2:c.2186G>C NP_004439.2:p.Gly729Ala
NR_110535.1:n.2510G>C
NR_110535.2:n.2424G>C
ENST00000269571.9:c.2186G>C ENSP00000269571.4:p.Gly729Ala
ENST00000406381.6:c.2096G>C ENSP00000385185.2:p.Gly699Ala
ENST00000445658.6:c.1358G>C ENSP00000404047.2:p.Gly453Ala
ENST00000541774.5:c.2141G>C ENSP00000446466.1:p.Gly714Ala
ENST00000578373.5:c.*1976G>C ENSP00000463427.1:n.*1976G>C
ENST00000578630.1:n.795G>C
ENST00000580074.1:c.292G>C
ENST00000582818.5:c.490+14G>C
ENST00000583038.5:n.3320G>C
ENST00000584450.5:c.2186G>C ENSP00000463714.1:p.Gly729Ala
ENST00000584601.5:c.2096G>C ENSP00000462438.1:p.Gly699Ala
XM_024450641.1:c.2324G>C XP_024306409.1:p.Gly775Ala
XM_024450642.1:c.2279G>C XP_024306410.1:p.Gly760Ala
XM_024450643.1:c.2234G>C XP_024306411.1:p.Gly745Ala