Canonical Allele Identifier: CA395143080
Gene: PALB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.23632764T>G (hg19) chr16:g.23621443T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23621443T>G , CM000678.2:g.23621443T>G GRCh38
NC_000016.9:g.23632764T>G , CM000678.1:g.23632764T>G GRCh37
NC_000016.8:g.23540265T>G NCBI36
NG_007406.1:g.24915A>C , LRG_308:g.24915A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3038A>C ENSP00000460666.3:p.Glu1013Ala
ENST00000565038.2:c.*513A>C ENSP00000459882.2:n.*513A>C
ENST00000566069.6:c.3032A>C ENSP00000459237.2:p.Glu1011Ala
ENST00000697377.2:c.2876A>C ENSP00000513286.2:p.Glu959Ala
ENST00000697379.2:c.3038A>C ENSP00000513287.2:p.Glu1013Ala
ENST00000561514.2:c.2147A>C ENSP00000460666.2:p.Glu716Ala
ENST00000697374.1:c.2147A>C ENSP00000513284.1:p.Glu716Ala
ENST00000697375.1:n.4379A>C
ENST00000697376.1:c.2147A>C ENSP00000513285.1:p.Glu716Ala
ENST00000697377.1:c.1985A>C ENSP00000513286.1:p.Glu662Ala
ENST00000697378.1:n.3552A>C
ENST00000697379.1:c.2147A>C ENSP00000513287.1:p.Glu716Ala
ENST00000697380.1:n.2324A>C
ENST00000697381.1:n.1727A>C
ENST00000697382.1:c.2147A>C ENSP00000513288.1:p.Glu716Ala
ENST00000697383.1:c.566A>C ENSP00000513289.1:p.Glu189Ala
ENST00000261584.9:c.3032A>C MANE Select ENSP00000261584.4:p.Glu1011Ala
ENST00000261584.8:c.3032A>C ENSP00000261584.4:p.Glu1011Ala
ENST00000568219.5:c.2147A>C ENSP00000454703.2:p.Glu716Ala
NM_024675.3:c.3032A>C , LRG_308t1:c.3032A>C NP_078951.2:p.Glu1011Ala
XM_011545946.1:c.3038A>C XP_011544248.1:p.Glu1013Ala
XM_011545947.1:c.3038A>C XP_011544249.1:p.Glu1013Ala
XM_011545948.1:c.2147A>C XP_011544250.1:p.Glu716Ala
XR_950851.1:n.3828A>C
XM_011545946.2:c.3038A>C XP_011544248.1:p.Glu1013Ala
XM_011545947.2:c.3038A>C XP_011544249.1:p.Glu1013Ala
XM_011545948.2:c.2147A>C XP_011544250.1:p.Glu716Ala
XM_017023671.1:c.3038A>C XP_016879160.1:p.Glu1013Ala
XM_017023672.2:c.3032A>C XP_016879161.1:p.Glu1011Ala
XM_017023673.2:c.3032A>C XP_016879162.1:p.Glu1011Ala
NM_024675.4:c.3032A>C MANE Select NP_078951.2:p.Glu1011Ala
Search 100 bp 5'
Search 100 bp 3'