Canonical Allele Identifier: CA483439960

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2736087
• ClinVar RCV Id: RCV003530950
• MyVariant Identifiers: chr13:g.32972796G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398659G>C , CM000675.2:g.32398659G>C	GRCh38
NC_000013.10:g.32972796G>C , CM000675.1:g.32972796G>C	GRCh37
NC_000013.9:g.31870796G>C	NCBI36
NG_012772.3:g.88180G>C , LRG_293:g.88180G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*669G>C	ENSP00000434898.2:n.*669G>C
ENST00000528762.2:c.*1513G>C	ENSP00000433168.2:n.*1513G>C
ENST00000530893.7:c.9777G>C	ENSP00000499438.2:p.Leu3259=
ENST00000665585.2:c.*1708G>C	ENSP00000499570.2:n.*1708G>C
ENST00000700202.2:c.10095G>C	ENSP00000514856.2:p.Leu3365=
ENST00000700202.1:c.2562G>C	ENSP00000514856.1:p.Leu854=
ENST00000700203.1:n.2273G>C
ENST00000380152.8:c.10146G>C MANE Select	ENSP00000369497.3:p.Leu3382=
ENST00000544455.6:c.10146G>C	ENSP00000439902.1:p.Leu3382=
ENST00000614259.2:c.10154G>C	ENSP00000506251.1:n.10154G>C
ENST00000680887.1:c.10146G>C	ENSP00000505508.1:p.Leu3382=
ENST00000380152.7:c.10146G>C	ENSP00000369497.3:p.Leu3382=
ENST00000544455.5:c.10146G>C	ENSP00000439902.1:p.Leu3382=
NM_000059.3:c.10146G>C , LRG_293t1:c.10146G>C	NP_000050.2:p.Leu3382=
XM_011535203.1:c.10146G>C	XP_011533505.1:p.Leu3382=
XM_011535204.1:c.10050G>C	XP_011533506.1:p.Leu3350=
NM_000059.4:c.10146G>C MANE Select	NP_000050.3:p.Leu3382=