Canonical Allele Identifier: CA387757433

Gene: BRCA2

Linked Data

• dbSNP Id: rs587780664
• gnomAD v2: 13-32953926-C-G
• gnomAD v4: 13-32379789-C-G
• MyVariant Identifiers: chr13:g.32953926C>G (hg19) ; chr13:g.32379789C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379789C>G , CM000675.2:g.32379789C>G	GRCh38
NC_000013.10:g.32953926C>G , CM000675.1:g.32953926C>G	GRCh37
NC_000013.9:g.31851926C>G	NCBI36
NG_012772.3:g.69310C>G , LRG_293:g.69310C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8993C>G	ENSP00000434898.2:p.Ser2998Cys
ENST00000528762.2:c.*360C>G	ENSP00000433168.2:n.*360C>G
ENST00000530893.7:c.8624C>G	ENSP00000499438.2:p.Ser2875Cys
ENST00000665585.2:c.*555C>G	ENSP00000499570.2:n.*555C>G
ENST00000666593.2:c.8993C>G	ENSP00000499256.2:p.Ser2998Cys
ENST00000700202.2:c.8954-12C>G	ENSP00000514856.2:n.8954-12C>G
ENST00000700202.1:c.1421-12C>G	ENSP00000514856.1:n.1421-12C>G
ENST00000700203.1:n.1120C>G
ENST00000380152.8:c.8993C>G MANE Select	ENSP00000369497.3:p.Ser2998Cys
ENST00000544455.6:c.8993C>G	ENSP00000439902.1:p.Ser2998Cys
ENST00000614259.2:c.9001C>G	ENSP00000506251.1:n.9001C>G
ENST00000665585.1:c.1871C>G
ENST00000680887.1:c.8993C>G	ENSP00000505508.1:p.Ser2998Cys
ENST00000380152.7:c.8993C>G	ENSP00000369497.3:p.Ser2998Cys
ENST00000544455.5:c.8993C>G	ENSP00000439902.1:p.Ser2998Cys
NM_000059.3:c.8993C>G , LRG_293t1:c.8993C>G	NP_000050.2:p.Ser2998Cys
XM_011535203.1:c.8993C>G	XP_011533505.1:p.Ser2998Cys
XM_011535204.1:c.8897C>G	XP_011533506.1:p.Ser2966Cys
XM_011535205.1:c.*31C>G	XP_011533507.1:n.*31C>G
NM_000059.4:c.8993C>G MANE Select	NP_000050.3:p.Ser2998Cys