Canonical Allele Identifier: CA387748541

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2736008
• ClinVar RCV Id: RCV003530949
• dbSNP Id: rs431825362
• gnomAD v4: 13-32363187-C-G
• MyVariant Identifiers: chr13:g.32937324C>G (hg19) ; chr13:g.32363187C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32363187C>G , CM000675.2:g.32363187C>G	GRCh38
NC_000013.10:g.32937324C>G , CM000675.1:g.32937324C>G	GRCh37
NC_000013.9:g.31835324C>G	NCBI36
NG_012772.3:g.52708C>G , LRG_293:g.52708C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7985C>G	ENSP00000434898.2:p.Thr2662Arg
ENST00000528762.2:c.7985C>G	ENSP00000433168.2:p.Thr2662Arg
ENST00000530893.7:c.7616C>G	ENSP00000499438.2:p.Thr2539Arg
ENST00000665585.2:c.7985C>G	ENSP00000499570.2:p.Thr2662Arg
ENST00000666593.2:c.7985C>G	ENSP00000499256.2:p.Thr2662Arg
ENST00000700202.2:c.7985C>G	ENSP00000514856.2:p.Thr2662Arg
ENST00000700202.1:c.452C>G	ENSP00000514856.1:p.Thr151Arg
ENST00000380152.8:c.7985C>G MANE Select	ENSP00000369497.3:p.Thr2662Arg
ENST00000544455.6:c.7985C>G	ENSP00000439902.1:p.Thr2662Arg
ENST00000614259.2:c.7993C>G	ENSP00000506251.1:n.7993C>G
ENST00000665585.1:c.550C>G
ENST00000680887.1:c.7985C>G	ENSP00000505508.1:p.Thr2662Arg
ENST00000380152.7:c.7985C>G	ENSP00000369497.3:p.Thr2662Arg
ENST00000544455.5:c.7985C>G	ENSP00000439902.1:p.Thr2662Arg
NM_000059.3:c.7985C>G , LRG_293t1:c.7985C>G	NP_000050.2:p.Thr2662Arg
XM_011535203.1:c.7985C>G	XP_011533505.1:p.Thr2662Arg
XM_011535204.1:c.7889C>G	XP_011533506.1:p.Thr2630Arg
XM_011535205.1:c.7985C>G	XP_011533507.1:p.Thr2662Arg
NM_000059.4:c.7985C>G MANE Select	NP_000050.3:p.Thr2662Arg