Canonical Allele Identifier: CA483271658

Gene: BRCA2

Linked Data

• dbSNP Id: rs876658792
• MyVariant Identifiers: chr13:g.32971091A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396954A>C , CM000675.2:g.32396954A>C	GRCh38
NC_000013.10:g.32971091A>C , CM000675.1:g.32971091A>C	GRCh37
NC_000013.9:g.31869091A>C	NCBI36
NG_012772.3:g.86475A>C , LRG_293:g.86475A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*81A>C	ENSP00000434898.2:n.*81A>C
ENST00000528762.2:c.*925A>C	ENSP00000433168.2:n.*925A>C
ENST00000530893.7:c.9189A>C	ENSP00000499438.2:p.Ala3063=
ENST00000665585.2:c.*1120A>C	ENSP00000499570.2:n.*1120A>C
ENST00000700202.2:c.9507A>C	ENSP00000514856.2:p.Ala3169=
ENST00000700202.1:c.1974A>C	ENSP00000514856.1:p.Ala658=
ENST00000700203.1:n.1685A>C
ENST00000380152.8:c.9558A>C MANE Select	ENSP00000369497.3:p.Ala3186=
ENST00000544455.6:c.9558A>C	ENSP00000439902.1:p.Ala3186=
ENST00000614259.2:c.9566A>C	ENSP00000506251.1:n.9566A>C
ENST00000665585.1:c.2436A>C
ENST00000680887.1:c.9558A>C	ENSP00000505508.1:p.Ala3186=
ENST00000380152.7:c.9558A>C	ENSP00000369497.3:p.Ala3186=
ENST00000470094.1:c.641A>C
ENST00000533776.1:n.146A>C
ENST00000544455.5:c.9558A>C	ENSP00000439902.1:p.Ala3186=
NM_000059.3:c.9558A>C , LRG_293t1:c.9558A>C	NP_000050.2:p.Ala3186=
XM_011535203.1:c.9558A>C	XP_011533505.1:p.Ala3186=
XM_011535204.1:c.9462A>C	XP_011533506.1:p.Ala3154=
NM_000059.4:c.9558A>C MANE Select	NP_000050.3:p.Ala3186=