Canonical Allele Identifier: CA395143196
Gene: PALB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.23632790T>G (hg19) chr16:g.23621469T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23621469T>G , CM000678.2:g.23621469T>G GRCh38
NC_000016.9:g.23632790T>G , CM000678.1:g.23632790T>G GRCh37
NC_000016.8:g.23540291T>G NCBI36
NG_007406.1:g.24889A>C , LRG_308:g.24889A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3012A>C ENSP00000460666.3:p.Glu1004Asp
ENST00000565038.2:c.*487A>C ENSP00000459882.2:n.*487A>C
ENST00000566069.6:c.3006A>C ENSP00000459237.2:p.Glu1002Asp
ENST00000697377.2:c.2850A>C ENSP00000513286.2:p.Glu950Asp
ENST00000697379.2:c.3012A>C ENSP00000513287.2:p.Glu1004Asp
ENST00000561514.2:c.2121A>C ENSP00000460666.2:p.Glu707Asp
ENST00000697374.1:c.2121A>C ENSP00000513284.1:p.Glu707Asp
ENST00000697375.1:n.4353A>C
ENST00000697376.1:c.2121A>C ENSP00000513285.1:p.Glu707Asp
ENST00000697377.1:c.1959A>C ENSP00000513286.1:p.Glu653Asp
ENST00000697378.1:n.3526A>C
ENST00000697379.1:c.2121A>C ENSP00000513287.1:p.Glu707Asp
ENST00000697380.1:n.2298A>C
ENST00000697381.1:n.1701A>C
ENST00000697382.1:c.2121A>C ENSP00000513288.1:p.Glu707Asp
ENST00000697383.1:c.540A>C ENSP00000513289.1:p.Glu180Asp
ENST00000261584.9:c.3006A>C MANE Select ENSP00000261584.4:p.Glu1002Asp
ENST00000261584.8:c.3006A>C ENSP00000261584.4:p.Glu1002Asp
ENST00000568219.5:c.2121A>C ENSP00000454703.2:p.Glu707Asp
NM_024675.3:c.3006A>C , LRG_308t1:c.3006A>C NP_078951.2:p.Glu1002Asp
XM_011545946.1:c.3012A>C XP_011544248.1:p.Glu1004Asp
XM_011545947.1:c.3012A>C XP_011544249.1:p.Glu1004Asp
XM_011545948.1:c.2121A>C XP_011544250.1:p.Glu707Asp
XR_950851.1:n.3802A>C
XM_011545946.2:c.3012A>C XP_011544248.1:p.Glu1004Asp
XM_011545947.2:c.3012A>C XP_011544249.1:p.Glu1004Asp
XM_011545948.2:c.2121A>C XP_011544250.1:p.Glu707Asp
XM_017023671.1:c.3012A>C XP_016879160.1:p.Glu1004Asp
XM_017023672.2:c.3006A>C XP_016879161.1:p.Glu1002Asp
XM_017023673.2:c.3006A>C XP_016879162.1:p.Glu1002Asp
NM_024675.4:c.3006A>C MANE Select NP_078951.2:p.Glu1002Asp
Search 100 bp 5'
Search 100 bp 3'