Canonical Allele Identifier: CA387761371

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 462525
• ClinVar RCV Id: RCV000544353 ; RCV001180792 ; RCV003234780
• dbSNP Id: rs80359215
• gnomAD v4: 13-32394833-G-C
• MyVariant Identifiers: chr13:g.32968970G>C (hg19) ; chr13:g.32394833G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394833G>C , CM000675.2:g.32394833G>C	GRCh38
NC_000013.10:g.32968970G>C , CM000675.1:g.32968970G>C	GRCh37
NC_000013.9:g.31866970G>C	NCBI36
NG_012772.3:g.84354G>C , LRG_293:g.84354G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9401G>C	ENSP00000434898.2:p.Gly3134Ala
ENST00000528762.2:c.*768G>C	ENSP00000433168.2:n.*768G>C
ENST00000530893.7:c.9032G>C	ENSP00000499438.2:p.Gly3011Ala
ENST00000665585.2:c.*963G>C	ENSP00000499570.2:n.*963G>C
ENST00000666593.2:c.*246G>C	ENSP00000499256.2:n.*246G>C
ENST00000700202.2:c.9350G>C	ENSP00000514856.2:p.Gly3117Ala
ENST00000700202.1:c.1817G>C	ENSP00000514856.1:p.Gly606Ala
ENST00000700203.1:n.1528G>C
ENST00000380152.8:c.9401G>C MANE Select	ENSP00000369497.3:p.Gly3134Ala
ENST00000544455.6:c.9401G>C	ENSP00000439902.1:p.Gly3134Ala
ENST00000614259.2:c.9409G>C	ENSP00000506251.1:n.9409G>C
ENST00000665585.1:c.2279G>C
ENST00000666593.1:c.423G>C	ENSP00000499256.1:n.423G>C
ENST00000680887.1:c.9401G>C	ENSP00000505508.1:p.Gly3134Ala
ENST00000380152.7:c.9401G>C	ENSP00000369497.3:p.Gly3134Ala
ENST00000470094.1:c.358G>C
ENST00000544455.5:c.9401G>C	ENSP00000439902.1:p.Gly3134Ala
NM_000059.3:c.9401G>C , LRG_293t1:c.9401G>C	NP_000050.2:p.Gly3134Ala
XM_011535203.1:c.9401G>C	XP_011533505.1:p.Gly3134Ala
XM_011535204.1:c.9305G>C	XP_011533506.1:p.Gly3102Ala
NM_000059.4:c.9401G>C MANE Select	NP_000050.3:p.Gly3134Ala