Canonical Allele Identifier: CA387768307

Gene: BRCA2

Linked Data

• dbSNP Id: rs1593202437
• MyVariant Identifiers: chr13:g.32972832G>C (hg19) ; chr13:g.32398695G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398695G>C , CM000675.2:g.32398695G>C	GRCh38
NC_000013.10:g.32972832G>C , CM000675.1:g.32972832G>C	GRCh37
NC_000013.9:g.31870832G>C	NCBI36
NG_012772.3:g.88216G>C , LRG_293:g.88216G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*705G>C	ENSP00000434898.2:n.*705G>C
ENST00000528762.2:c.*1549G>C	ENSP00000433168.2:n.*1549G>C
ENST00000530893.7:c.9813G>C	ENSP00000499438.2:p.Gln3271His
ENST00000665585.2:c.*1744G>C	ENSP00000499570.2:n.*1744G>C
ENST00000700202.2:c.10131G>C	ENSP00000514856.2:p.Gln3377His
ENST00000700202.1:c.2598G>C	ENSP00000514856.1:p.Gln866His
ENST00000700203.1:n.2309G>C
ENST00000380152.8:c.10182G>C MANE Select	ENSP00000369497.3:p.Gln3394His
ENST00000544455.6:c.10182G>C	ENSP00000439902.1:p.Gln3394His
ENST00000614259.2:c.10190G>C	ENSP00000506251.1:n.10190G>C
ENST00000680887.1:c.10182G>C	ENSP00000505508.1:p.Gln3394His
ENST00000380152.7:c.10182G>C	ENSP00000369497.3:p.Gln3394His
ENST00000544455.5:c.10182G>C	ENSP00000439902.1:p.Gln3394His
NM_000059.3:c.10182G>C , LRG_293t1:c.10182G>C	NP_000050.2:p.Gln3394His
XM_011535203.1:c.10182G>C	XP_011533505.1:p.Gln3394His
XM_011535204.1:c.10086G>C	XP_011533506.1:p.Gln3362His
NM_000059.4:c.10182G>C MANE Select	NP_000050.3:p.Gln3394His