Canonical Allele Identifier: CA387766450

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1678942
• ClinVar RCV Id: RCV002226255
• dbSNP Id: rs2137664388
• MyVariant Identifiers: chr13:g.32972497G>A (hg19) ; chr13:g.32398360G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398360G>A , CM000675.2:g.32398360G>A	GRCh38
NC_000013.10:g.32972497G>A , CM000675.1:g.32972497G>A	GRCh37
NC_000013.9:g.31870497G>A	NCBI36
NG_012772.3:g.87881G>A , LRG_293:g.87881G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*370G>A	ENSP00000434898.2:n.*370G>A
ENST00000528762.2:c.*1214G>A	ENSP00000433168.2:n.*1214G>A
ENST00000530893.7:c.9478G>A	ENSP00000499438.2:p.Val3160Ile
ENST00000665585.2:c.*1409G>A	ENSP00000499570.2:n.*1409G>A
ENST00000700202.2:c.9796G>A	ENSP00000514856.2:p.Val3266Ile
ENST00000700202.1:c.2263G>A	ENSP00000514856.1:p.Val755Ile
ENST00000700203.1:n.1974G>A
ENST00000380152.8:c.9847G>A MANE Select	ENSP00000369497.3:p.Val3283Ile
ENST00000544455.6:c.9847G>A	ENSP00000439902.1:p.Val3283Ile
ENST00000614259.2:c.9855G>A	ENSP00000506251.1:n.9855G>A
ENST00000680887.1:c.9847G>A	ENSP00000505508.1:p.Val3283Ile
ENST00000380152.7:c.9847G>A	ENSP00000369497.3:p.Val3283Ile
ENST00000533776.1:n.435G>A
ENST00000544455.5:c.9847G>A	ENSP00000439902.1:p.Val3283Ile
NM_000059.3:c.9847G>A , LRG_293t1:c.9847G>A	NP_000050.2:p.Val3283Ile
XM_011535203.1:c.9847G>A	XP_011533505.1:p.Val3283Ile
XM_011535204.1:c.9751G>A	XP_011533506.1:p.Val3251Ile
NM_000059.4:c.9847G>A MANE Select	NP_000050.3:p.Val3283Ile