Canonical Allele Identifier: CA025767

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 91732
• ClinVar RCV Id: RCV000077640 ; RCV000163014 ; RCV000535357 ; RCV000441231 ; RCV001701587
• dbSNP Id: rs80359123
• ExAC: 13:32950836 C / T
• gnomAD v2: 13-32950836-C-T
• gnomAD v3: 13-32376699-C-T
• gnomAD v4: 13-32376699-C-T
• MyVariant Identifiers: chr13:g.32950836C>T (hg19) ; chr13:g.32376699C>T (hg38)
• PubMed: PMID:21990134

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376699C>T , CM000675.2:g.32376699C>T	GRCh38
NC_000013.10:g.32950836C>T , CM000675.1:g.32950836C>T	GRCh37
NC_000013.9:g.31848836C>T	NCBI36
NG_012772.3:g.66220C>T , LRG_293:g.66220C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8662C>T	ENSP00000434898.2:p.Arg2888Cys
ENST00000528762.2:c.*29C>T	ENSP00000433168.2:n.*29C>T
ENST00000530893.7:c.8293C>T	ENSP00000499438.2:p.Arg2765Cys
ENST00000665585.2:c.*224C>T	ENSP00000499570.2:n.*224C>T
ENST00000666593.2:c.8662C>T	ENSP00000499256.2:p.Arg2888Cys
ENST00000700202.2:c.8662C>T	ENSP00000514856.2:p.Arg2888Cys
ENST00000700202.1:c.1129C>T	ENSP00000514856.1:p.Arg377Cys
ENST00000700203.1:n.789C>T
ENST00000380152.8:c.8662C>T MANE Select	ENSP00000369497.3:p.Arg2888Cys
ENST00000544455.6:c.8662C>T	ENSP00000439902.1:p.Arg2888Cys
ENST00000614259.2:c.8670C>T	ENSP00000506251.1:n.8670C>T
ENST00000665585.1:c.1540C>T
ENST00000680887.1:c.8662C>T	ENSP00000505508.1:p.Arg2888Cys
ENST00000380152.7:c.8662C>T	ENSP00000369497.3:p.Arg2888Cys
ENST00000528762.1:c.224C>T	ENSP00000433168.1:n.224C>T
ENST00000544455.5:c.8662C>T	ENSP00000439902.1:p.Arg2888Cys
NM_000059.3:c.8662C>T , LRG_293t1:c.8662C>T	NP_000050.2:p.Arg2888Cys
XM_011535203.1:c.8662C>T	XP_011533505.1:p.Arg2888Cys
XM_011535204.1:c.8566C>T	XP_011533506.1:p.Arg2856Cys
XM_011535205.1:c.8662C>T	XP_011533507.1:p.Arg2888Cys
NM_000059.4:c.8662C>T MANE Select	NP_000050.3:p.Arg2888Cys