Canonical Allele Identifier: CA020187
Gene: BRCA2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 51649
dbSNP Id: rs397507719

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32338795T>G , CM000675.2:g.32338795T>G GRCh38
NC_000013.10:g.32912932T>G , CM000675.1:g.32912932T>G GRCh37
NC_000013.9:g.31810932T>G NCBI36
NG_012772.3:g.28316T>G , LRG_293:g.28316T>G

Transcript Alleles

HGVS Amino-acid change
NM_000059.3:c.4440T>G , LRG_293t1:c.4440T>G NP_000050.2:p.Tyr1480Ter
XM_011535203.1:c.4440T>G XP_011533505.1:p.Tyr1480Ter
XM_011535204.1:c.4440T>G XP_011533506.1:p.Tyr1480Ter
XM_011535205.1:c.4440T>G XP_011533507.1:p.Tyr1480Ter
ENST00000380152.7:c.4440T>G ENSP00000369497.3:p.Tyr1480Ter
ENST00000544455.5:c.4440T>G ENSP00000439902.1:p.Tyr1480Ter
ENST00000614259.1:n.4440T>G