Canonical Allele Identifier: CA483440118

Gene: BRCA2

Linked Data

• dbSNP Id: rs1131692128
• MyVariant Identifiers: chr13:g.32972460C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398323C>T , CM000675.2:g.32398323C>T	GRCh38
NC_000013.10:g.32972460C>T , CM000675.1:g.32972460C>T	GRCh37
NC_000013.9:g.31870460C>T	NCBI36
NG_012772.3:g.87844C>T , LRG_293:g.87844C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*333C>T	ENSP00000434898.2:n.*333C>T
ENST00000528762.2:c.*1177C>T	ENSP00000433168.2:n.*1177C>T
ENST00000530893.7:c.9441C>T	ENSP00000499438.2:p.Ala3147=
ENST00000665585.2:c.*1372C>T	ENSP00000499570.2:n.*1372C>T
ENST00000700202.2:c.9759C>T	ENSP00000514856.2:p.Ala3253=
ENST00000700202.1:c.2226C>T	ENSP00000514856.1:p.Ala742=
ENST00000700203.1:n.1937C>T
ENST00000380152.8:c.9810C>T MANE Select	ENSP00000369497.3:p.Ala3270=
ENST00000544455.6:c.9810C>T	ENSP00000439902.1:p.Ala3270=
ENST00000614259.2:c.9818C>T	ENSP00000506251.1:n.9818C>T
ENST00000680887.1:c.9810C>T	ENSP00000505508.1:p.Ala3270=
ENST00000380152.7:c.9810C>T	ENSP00000369497.3:p.Ala3270=
ENST00000533776.1:n.398C>T
ENST00000544455.5:c.9810C>T	ENSP00000439902.1:p.Ala3270=
NM_000059.3:c.9810C>T , LRG_293t1:c.9810C>T	NP_000050.2:p.Ala3270=
XM_011535203.1:c.9810C>T	XP_011533505.1:p.Ala3270=
XM_011535204.1:c.9714C>T	XP_011533506.1:p.Ala3238=
NM_000059.4:c.9810C>T MANE Select	NP_000050.3:p.Ala3270=