Canonical Allele Identifier: CA395138214
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1425379
ClinVar RCV Id: RCV001957403
dbSNP Id: rs62625283

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23603602A>G , CM000678.2:g.23603602A>G GRCh38
NC_000016.9:g.23614923A>G , CM000678.1:g.23614923A>G GRCh37
NC_000016.8:g.23522424A>G NCBI36
NG_007406.1:g.42756T>C , LRG_308:g.42756T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3424T>C ENSP00000460666.3:p.Trp1142Arg
ENST00000565038.2:c.*903T>C ENSP00000459882.2:n.*903T>C
ENST00000566069.6:c.*53T>C ENSP00000459237.2:n.*53T>C
ENST00000697377.2:c.3262T>C ENSP00000513286.2:p.Trp1088Arg
ENST00000697379.2:c.3424T>C ENSP00000513287.2:p.Trp1142Arg
ENST00000561514.2:c.2533T>C ENSP00000460666.2:p.Trp845Arg
ENST00000697374.1:c.2533T>C ENSP00000513284.1:p.Trp845Arg
ENST00000697375.1:n.4765T>C
ENST00000697376.1:c.*53T>C ENSP00000513285.1:n.*53T>C
ENST00000697377.1:c.2371T>C ENSP00000513286.1:p.Trp791Arg
ENST00000697378.1:n.3938T>C
ENST00000697379.1:c.2533T>C ENSP00000513287.1:p.Trp845Arg
ENST00000697380.1:n.2622T>C
ENST00000697381.1:n.2113T>C
ENST00000697382.1:c.*195T>C ENSP00000513288.1:n.*195T>C
ENST00000697383.1:c.952T>C ENSP00000513289.1:p.Trp318Arg
ENST00000261584.9:c.3418T>C MANE Select ENSP00000261584.4:p.Trp1140Arg
ENST00000261584.8:c.3418T>C ENSP00000261584.4:p.Trp1140Arg
ENST00000566069.5:c.184T>C
ENST00000568219.5:c.2533T>C ENSP00000454703.2:p.Trp845Arg
NM_024675.3:c.3418T>C , LRG_308t1:c.3418T>C NP_078951.2:p.Trp1140Arg
XM_011545946.1:c.3424T>C XP_011544248.1:p.Trp1142Arg
XM_011545947.1:c.*53T>C XP_011544249.1:n.*53T>C
XM_011545948.1:c.2533T>C XP_011544250.1:p.Trp845Arg
XR_950851.1:n.4126T>C
XM_011545946.2:c.3424T>C XP_011544248.1:p.Trp1142Arg
XM_011545947.2:c.*53T>C XP_011544249.1:n.*53T>C
XM_011545948.2:c.2533T>C XP_011544250.1:p.Trp845Arg
XM_017023671.1:c.3187T>C XP_016879160.1:p.Trp1063Arg
XM_017023672.2:c.3181T>C XP_016879161.1:p.Trp1061Arg
XM_017023673.2:c.*53T>C XP_016879162.1:n.*53T>C
NM_024675.4:c.3418T>C MANE Select NP_078951.2:p.Trp1140Arg