Canonical Allele Identifier: CA395122099
Gene: PALB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23626327C>A , CM000678.2:g.23626327C>A GRCh38
NC_000016.9:g.23637648C>A , CM000678.1:g.23637648C>A GRCh37
NC_000016.8:g.23545149C>A NCBI36
NG_007406.1:g.20031G>T , LRG_308:g.20031G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2663G>T ENSP00000460666.3:p.Cys888Phe
ENST00000565038.2:c.*138G>T ENSP00000459882.2:n.*138G>T
ENST00000566069.6:c.2657G>T ENSP00000459237.2:p.Cys886Phe
ENST00000697377.2:c.2593-2233G>T ENSP00000513286.2:n.2593-2233G>T
ENST00000697379.2:c.2663G>T ENSP00000513287.2:p.Cys888Phe
ENST00000561514.2:c.1772G>T ENSP00000460666.2:p.Cys591Phe
ENST00000697374.1:c.1772G>T ENSP00000513284.1:p.Cys591Phe
ENST00000697375.1:n.4004G>T
ENST00000697376.1:c.1772G>T ENSP00000513285.1:p.Cys591Phe
ENST00000697377.1:c.1702-2233G>T ENSP00000513286.1:n.1702-2233G>T
ENST00000697378.1:n.3177G>T
ENST00000697379.1:c.1772G>T ENSP00000513287.1:p.Cys591Phe
ENST00000697380.1:n.1949G>T
ENST00000697381.1:n.1352G>T
ENST00000697382.1:c.1772G>T ENSP00000513288.1:p.Cys591Phe
ENST00000697383.1:c.191G>T ENSP00000513289.1:p.Cys64Phe
ENST00000261584.9:c.2657G>T MANE Select ENSP00000261584.4:p.Cys886Phe
ENST00000261584.8:c.2657G>T ENSP00000261584.4:p.Cys886Phe
ENST00000565038.1:c.229G>T
ENST00000568219.5:c.1772G>T ENSP00000454703.2:p.Cys591Phe
NM_024675.3:c.2657G>T , LRG_308t1:c.2657G>T NP_078951.2:p.Cys886Phe
XM_011545946.1:c.2663G>T XP_011544248.1:p.Cys888Phe
XM_011545947.1:c.2663G>T XP_011544249.1:p.Cys888Phe
XM_011545948.1:c.1772G>T XP_011544250.1:p.Cys591Phe
XR_950851.1:n.3453G>T
XM_011545946.2:c.2663G>T XP_011544248.1:p.Cys888Phe
XM_011545947.2:c.2663G>T XP_011544249.1:p.Cys888Phe
XM_011545948.2:c.1772G>T XP_011544250.1:p.Cys591Phe
XM_017023671.1:c.2663G>T XP_016879160.1:p.Cys888Phe
XM_017023672.2:c.2657G>T XP_016879161.1:p.Cys886Phe
XM_017023673.2:c.2657G>T XP_016879162.1:p.Cys886Phe
NM_024675.4:c.2657G>T MANE Select NP_078951.2:p.Cys886Phe