Canonical Allele Identifier: CA483440123

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1550597
• ClinVar RCV Id: RCV002175533
• dbSNP Id: rs2137664035
• MyVariant Identifiers: chr13:g.32972463G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398326G>A , CM000675.2:g.32398326G>A	GRCh38
NC_000013.10:g.32972463G>A , CM000675.1:g.32972463G>A	GRCh37
NC_000013.9:g.31870463G>A	NCBI36
NG_012772.3:g.87847G>A , LRG_293:g.87847G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*336G>A	ENSP00000434898.2:n.*336G>A
ENST00000528762.2:c.*1180G>A	ENSP00000433168.2:n.*1180G>A
ENST00000530893.7:c.9444G>A	ENSP00000499438.2:p.Leu3148=
ENST00000665585.2:c.*1375G>A	ENSP00000499570.2:n.*1375G>A
ENST00000700202.2:c.9762G>A	ENSP00000514856.2:p.Leu3254=
ENST00000700202.1:c.2229G>A	ENSP00000514856.1:p.Leu743=
ENST00000700203.1:n.1940G>A
ENST00000380152.8:c.9813G>A MANE Select	ENSP00000369497.3:p.Leu3271=
ENST00000544455.6:c.9813G>A	ENSP00000439902.1:p.Leu3271=
ENST00000614259.2:c.9821G>A	ENSP00000506251.1:n.9821G>A
ENST00000680887.1:c.9813G>A	ENSP00000505508.1:p.Leu3271=
ENST00000380152.7:c.9813G>A	ENSP00000369497.3:p.Leu3271=
ENST00000533776.1:n.401G>A
ENST00000544455.5:c.9813G>A	ENSP00000439902.1:p.Leu3271=
NM_000059.3:c.9813G>A , LRG_293t1:c.9813G>A	NP_000050.2:p.Leu3271=
XM_011535203.1:c.9813G>A	XP_011533505.1:p.Leu3271=
XM_011535204.1:c.9717G>A	XP_011533506.1:p.Leu3239=
NM_000059.4:c.9813G>A MANE Select	NP_000050.3:p.Leu3271=