Canonical Allele Identifier: CA483439660

Gene: BRCA2

Linked Data

• dbSNP Id: rs1566252757
• gnomAD v4: 13-32379469-G-C
• MyVariant Identifiers: chr13:g.32953606G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379469G>C , CM000675.2:g.32379469G>C	GRCh38
NC_000013.10:g.32953606G>C , CM000675.1:g.32953606G>C	GRCh37
NC_000013.9:g.31851606G>C	NCBI36
NG_012772.3:g.68990G>C , LRG_293:g.68990G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8907G>C	ENSP00000434898.2:p.Val2969=
ENST00000528762.2:c.*274G>C	ENSP00000433168.2:n.*274G>C
ENST00000530893.7:c.8538G>C	ENSP00000499438.2:p.Val2846=
ENST00000665585.2:c.*469G>C	ENSP00000499570.2:n.*469G>C
ENST00000666593.2:c.8907G>C	ENSP00000499256.2:p.Val2969=
ENST00000700202.2:c.8907G>C	ENSP00000514856.2:p.Val2969=
ENST00000700202.1:c.1374G>C	ENSP00000514856.1:p.Val458=
ENST00000700203.1:n.1034G>C
ENST00000380152.8:c.8907G>C MANE Select	ENSP00000369497.3:p.Val2969=
ENST00000544455.6:c.8907G>C	ENSP00000439902.1:p.Val2969=
ENST00000614259.2:c.8915G>C	ENSP00000506251.1:n.8915G>C
ENST00000665585.1:c.1785G>C
ENST00000680887.1:c.8907G>C	ENSP00000505508.1:p.Val2969=
ENST00000380152.7:c.8907G>C	ENSP00000369497.3:p.Val2969=
ENST00000528762.1:c.469G>C	ENSP00000433168.1:n.469G>C
ENST00000544455.5:c.8907G>C	ENSP00000439902.1:p.Val2969=
NM_000059.3:c.8907G>C , LRG_293t1:c.8907G>C	NP_000050.2:p.Val2969=
XM_011535203.1:c.8907G>C	XP_011533505.1:p.Val2969=
XM_011535204.1:c.8811G>C	XP_011533506.1:p.Val2937=
XM_011535205.1:c.8755-281G>C	XP_011533507.1:n.8755-281G>C
NM_000059.4:c.8907G>C MANE Select	NP_000050.3:p.Val2969=