Canonical Allele Identifier: CA025874
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 38194
dbSNP Id: rs80359143

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379480G>A , CM000675.2:g.32379480G>A GRCh38
NC_000013.10:g.32953617G>A , CM000675.1:g.32953617G>A GRCh37
NC_000013.9:g.31851617G>A NCBI36
NG_012772.3:g.69001G>A , LRG_293:g.69001G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8918G>A ENSP00000434898.2:p.Arg2973His
ENST00000528762.2:c.*285G>A ENSP00000433168.2:n.*285G>A
ENST00000530893.7:c.8549G>A ENSP00000499438.2:p.Arg2850His
ENST00000665585.2:c.*480G>A ENSP00000499570.2:n.*480G>A
ENST00000666593.2:c.8918G>A ENSP00000499256.2:p.Arg2973His
ENST00000700202.2:c.8918G>A ENSP00000514856.2:p.Arg2973His
ENST00000700202.1:c.1385G>A ENSP00000514856.1:p.Arg462His
ENST00000700203.1:n.1045G>A
ENST00000380152.8:c.8918G>A MANE Select ENSP00000369497.3:p.Arg2973His
ENST00000544455.6:c.8918G>A ENSP00000439902.1:p.Arg2973His
ENST00000614259.2:c.8926G>A ENSP00000506251.1:n.8926G>A
ENST00000665585.1:c.1796G>A
ENST00000680887.1:c.8918G>A ENSP00000505508.1:p.Arg2973His
ENST00000380152.7:c.8918G>A ENSP00000369497.3:p.Arg2973His
ENST00000528762.1:c.480G>A ENSP00000433168.1:n.480G>A
ENST00000544455.5:c.8918G>A ENSP00000439902.1:p.Arg2973His
NM_000059.3:c.8918G>A , LRG_293t1:c.8918G>A NP_000050.2:p.Arg2973His
XM_011535203.1:c.8918G>A XP_011533505.1:p.Arg2973His
XM_011535204.1:c.8822G>A XP_011533506.1:p.Arg2941His
XM_011535205.1:c.8755-270G>A XP_011533507.1:n.8755-270G>A
NM_000059.4:c.8918G>A MANE Select NP_000050.3:p.Arg2973His