Canonical Allele Identifier: CA012202

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51132
• ClinVar RCV Id: RCV000112926 ; RCV000571207 ; RCV000781146 ; RCV001346743 ; RCV002277133
• dbSNP Id: rs80358437
• ExAC: 13:32907098 G / C
• gnomAD v2: 13-32907098-G-C
• MyVariant Identifiers: chr13:g.32907098G>C (hg19) ; chr13:g.32332961G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32332961G>C , CM000675.2:g.32332961G>C	GRCh38
NC_000013.10:g.32907098G>C , CM000675.1:g.32907098G>C	GRCh37
NC_000013.9:g.31805098G>C	NCBI36
NG_012772.3:g.22482G>C , LRG_293:g.22482G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.1483G>C	ENSP00000434898.2:p.Ala495Pro
ENST00000528762.2:c.1483G>C	ENSP00000433168.2:p.Ala495Pro
ENST00000530893.7:c.1114G>C	ENSP00000499438.2:p.Ala372Pro
ENST00000665585.2:c.1483G>C	ENSP00000499570.2:p.Ala495Pro
ENST00000666593.2:c.1483G>C	ENSP00000499256.2:p.Ala495Pro
ENST00000700202.2:c.1483G>C	ENSP00000514856.2:p.Ala495Pro
ENST00000700201.1:c.*1262G>C	ENSP00000514855.1:n.*1262G>C
ENST00000380152.8:c.1483G>C MANE Select	ENSP00000369497.3:p.Ala495Pro
ENST00000544455.6:c.1483G>C	ENSP00000439902.1:p.Ala495Pro
ENST00000614259.2:c.1483G>C	ENSP00000506251.1:p.Ala495Pro
ENST00000680887.1:c.1483G>C	ENSP00000505508.1:p.Ala495Pro
ENST00000380152.7:c.1483G>C	ENSP00000369497.3:p.Ala495Pro
ENST00000530893.6:n.1681G>C
ENST00000544455.5:c.1483G>C	ENSP00000439902.1:p.Ala495Pro
ENST00000614259.1:n.1483G>C
NM_000059.3:c.1483G>C , LRG_293t1:c.1483G>C	NP_000050.2:p.Ala495Pro
XM_011535203.1:c.1483G>C	XP_011533505.1:p.Ala495Pro
XM_011535204.1:c.1483G>C	XP_011533506.1:p.Ala495Pro
XM_011535205.1:c.1483G>C	XP_011533507.1:p.Ala495Pro
NM_000059.4:c.1483G>C MANE Select	NP_000050.3:p.Ala495Pro