Canonical Allele Identifier: CA658656450

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 479362
• ClinVar RCV Id: RCV000565400 ; RCV001220476
• dbSNP Id: rs1555288593
• MyVariant Identifiers: chr13:g.32954285A>C (hg19) ; chr13:g.32380148A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380148A>C , CM000675.2:g.32380148A>C	GRCh38
NC_000013.10:g.32954285A>C , CM000675.1:g.32954285A>C	GRCh37
NC_000013.9:g.31852285A>C	NCBI36
NG_012772.3:g.69669A>C , LRG_293:g.69669A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9256+3A>C	ENSP00000434898.2:n.9256+3A>C
ENST00000528762.2:c.*623+3A>C	ENSP00000433168.2:n.*623+3A>C
ENST00000530893.7:c.8887+3A>C	ENSP00000499438.2:n.8887+3A>C
ENST00000665585.2:c.*818+3A>C	ENSP00000499570.2:n.*818+3A>C
ENST00000666593.2:c.9256+3A>C	ENSP00000499256.2:n.9256+3A>C
ENST00000700202.2:c.9205+3A>C	ENSP00000514856.2:n.9205+3A>C
ENST00000700202.1:c.1672+3A>C	ENSP00000514856.1:n.1672+3A>C
ENST00000700203.1:n.1383+3A>C
ENST00000380152.8:c.9256+3A>C MANE Select	ENSP00000369497.3:n.9256+3A>C
ENST00000544455.6:c.9256+3A>C	ENSP00000439902.1:n.9256+3A>C
ENST00000614259.2:c.9264+3A>C	ENSP00000506251.1:n.9264+3A>C
ENST00000665585.1:c.2134+3A>C
ENST00000666593.1:c.139+3A>C	ENSP00000499256.1:n.139+3A>C
ENST00000680887.1:c.9256+3A>C	ENSP00000505508.1:n.9256+3A>C
ENST00000380152.7:c.9256+3A>C	ENSP00000369497.3:n.9256+3A>C
ENST00000470094.1:c.213+3A>C
ENST00000544455.5:c.9256+3A>C	ENSP00000439902.1:n.9256+3A>C
NM_000059.3:c.9256+3A>C , LRG_293t1:c.9256+3A>C	NP_000050.2:n.9256+3A>C
XM_011535203.1:c.9256+3A>C	XP_011533505.1:n.9256+3A>C
XM_011535204.1:c.9160+3A>C	XP_011533506.1:n.9160+3A>C
NM_000059.4:c.9256+3A>C MANE Select	NP_000050.3:n.9256+3A>C