Canonical Allele Identifier: CA483261785

Gene: BRCA2

Linked Data

• dbSNP Id: rs1283898827
• gnomAD v2: 13-32950865-T-C
• gnomAD v4: 13-32376728-T-C
• MyVariant Identifiers: chr13:g.32950865T>C (hg19) ; chr13:g.32376728T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376728T>C , CM000675.2:g.32376728T>C	GRCh38
NC_000013.10:g.32950865T>C , CM000675.1:g.32950865T>C	GRCh37
NC_000013.9:g.31848865T>C	NCBI36
NG_012772.3:g.66249T>C , LRG_293:g.66249T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8691T>C	ENSP00000434898.2:p.Ala2897=
ENST00000528762.2:c.*58T>C	ENSP00000433168.2:n.*58T>C
ENST00000530893.7:c.8322T>C	ENSP00000499438.2:p.Ala2774=
ENST00000665585.2:c.*253T>C	ENSP00000499570.2:n.*253T>C
ENST00000666593.2:c.8691T>C	ENSP00000499256.2:p.Ala2897=
ENST00000700202.2:c.8691T>C	ENSP00000514856.2:p.Ala2897=
ENST00000700202.1:c.1158T>C	ENSP00000514856.1:p.Ala386=
ENST00000700203.1:n.818T>C
ENST00000380152.8:c.8691T>C MANE Select	ENSP00000369497.3:p.Ala2897=
ENST00000544455.6:c.8691T>C	ENSP00000439902.1:p.Ala2897=
ENST00000614259.2:c.8699T>C	ENSP00000506251.1:n.8699T>C
ENST00000665585.1:c.1569T>C
ENST00000680887.1:c.8691T>C	ENSP00000505508.1:p.Ala2897=
ENST00000380152.7:c.8691T>C	ENSP00000369497.3:p.Ala2897=
ENST00000528762.1:c.253T>C	ENSP00000433168.1:n.253T>C
ENST00000544455.5:c.8691T>C	ENSP00000439902.1:p.Ala2897=
NM_000059.3:c.8691T>C , LRG_293t1:c.8691T>C	NP_000050.2:p.Ala2897=
XM_011535203.1:c.8691T>C	XP_011533505.1:p.Ala2897=
XM_011535204.1:c.8595T>C	XP_011533506.1:p.Ala2865=
XM_011535205.1:c.8691T>C	XP_011533507.1:p.Ala2897=
NM_000059.4:c.8691T>C MANE Select	NP_000050.3:p.Ala2897=