Canonical Allele Identifier: CA387767900

Gene: BRCA2

Linked Data

• dbSNP Id: rs1593202253
• MyVariant Identifiers: chr13:g.32972722G>C (hg19) ; chr13:g.32398585G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398585G>C , CM000675.2:g.32398585G>C	GRCh38
NC_000013.10:g.32972722G>C , CM000675.1:g.32972722G>C	GRCh37
NC_000013.9:g.31870722G>C	NCBI36
NG_012772.3:g.88106G>C , LRG_293:g.88106G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*595G>C	ENSP00000434898.2:n.*595G>C
ENST00000528762.2:c.*1439G>C	ENSP00000433168.2:n.*1439G>C
ENST00000530893.7:c.9703G>C	ENSP00000499438.2:p.Gly3235Arg
ENST00000665585.2:c.*1634G>C	ENSP00000499570.2:n.*1634G>C
ENST00000700202.2:c.10021G>C	ENSP00000514856.2:p.Gly3341Arg
ENST00000700202.1:c.2488G>C	ENSP00000514856.1:p.Gly830Arg
ENST00000700203.1:n.2199G>C
ENST00000380152.8:c.10072G>C MANE Select	ENSP00000369497.3:p.Gly3358Arg
ENST00000544455.6:c.10072G>C	ENSP00000439902.1:p.Gly3358Arg
ENST00000614259.2:c.10080G>C	ENSP00000506251.1:n.10080G>C
ENST00000680887.1:c.10072G>C	ENSP00000505508.1:p.Gly3358Arg
ENST00000380152.7:c.10072G>C	ENSP00000369497.3:p.Gly3358Arg
ENST00000544455.5:c.10072G>C	ENSP00000439902.1:p.Gly3358Arg
NM_000059.3:c.10072G>C , LRG_293t1:c.10072G>C	NP_000050.2:p.Gly3358Arg
XM_011535203.1:c.10072G>C	XP_011533505.1:p.Gly3358Arg
XM_011535204.1:c.9976G>C	XP_011533506.1:p.Gly3326Arg
NM_000059.4:c.10072G>C MANE Select	NP_000050.3:p.Gly3358Arg