Canonical Allele Identifier: CA026190

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52858
• ClinVar RCV Id: RCV000114124 ; RCV000131049 ; RCV000507477 ; RCV001387733
• dbSNP Id: rs81002868
• gnomAD v2: 13-32971033-A-C
• gnomAD v4: 13-32396896-A-C
• MyVariant Identifiers: chr13:g.32971033A>C (hg19) ; chr13:g.32396896A>C (hg38)
• PubMed: PMID:20421506 ; PMID:21523855 ; PMID:25154786 ; PMID:25382762

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396896A>C , CM000675.2:g.32396896A>C	GRCh38
NC_000013.10:g.32971033A>C , CM000675.1:g.32971033A>C	GRCh37
NC_000013.9:g.31869033A>C	NCBI36
NG_012772.3:g.86417A>C , LRG_293:g.86417A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*25-2A>C	ENSP00000434898.2:n.*25-2A>C
ENST00000528762.2:c.*869-2A>C	ENSP00000433168.2:n.*869-2A>C
ENST00000530893.7:c.9133-2A>C	ENSP00000499438.2:n.9133-2A>C
ENST00000665585.2:c.*1064-2A>C	ENSP00000499570.2:n.*1064-2A>C
ENST00000700202.2:c.9451-2A>C	ENSP00000514856.2:n.9451-2A>C
ENST00000700202.1:c.1918-2A>C	ENSP00000514856.1:n.1918-2A>C
ENST00000700203.1:n.1629-2A>C
ENST00000380152.8:c.9502-2A>C MANE Select	ENSP00000369497.3:n.9502-2A>C
ENST00000544455.6:c.9502-2A>C	ENSP00000439902.1:n.9502-2A>C
ENST00000614259.2:c.9510-2A>C	ENSP00000506251.1:n.9510-2A>C
ENST00000665585.1:c.2380-2A>C
ENST00000680887.1:c.9502-2A>C	ENSP00000505508.1:n.9502-2A>C
ENST00000380152.7:c.9502-2A>C	ENSP00000369497.3:n.9502-2A>C
ENST00000470094.1:c.585-2A>C
ENST00000533776.1:n.88A>C
ENST00000544455.5:c.9502-2A>C	ENSP00000439902.1:n.9502-2A>C
NM_000059.3:c.9502-2A>C , LRG_293t1:c.9502-2A>C	NP_000050.2:n.9502-2A>C
XM_011535203.1:c.9502-2A>C	XP_011533505.1:n.9502-2A>C
XM_011535204.1:c.9406-2A>C	XP_011533506.1:n.9406-2A>C
NM_000059.4:c.9502-2A>C MANE Select	NP_000050.3:n.9502-2A>C