Canonical Allele Identifier: CA387757389

Gene: BRCA2

Linked Data

• dbSNP Id: rs751787816
• MyVariant Identifiers: chr13:g.32953904C>G (hg19) ; chr13:g.32379767C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379767C>G , CM000675.2:g.32379767C>G	GRCh38
NC_000013.10:g.32953904C>G , CM000675.1:g.32953904C>G	GRCh37
NC_000013.9:g.31851904C>G	NCBI36
NG_012772.3:g.69288C>G , LRG_293:g.69288C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8971C>G	ENSP00000434898.2:p.Arg2991Gly
ENST00000528762.2:c.*338C>G	ENSP00000433168.2:n.*338C>G
ENST00000530893.7:c.8602C>G	ENSP00000499438.2:p.Arg2868Gly
ENST00000665585.2:c.*533C>G	ENSP00000499570.2:n.*533C>G
ENST00000666593.2:c.8971C>G	ENSP00000499256.2:p.Arg2991Gly
ENST00000700202.2:c.8954-34C>G	ENSP00000514856.2:n.8954-34C>G
ENST00000700202.1:c.1421-34C>G	ENSP00000514856.1:n.1421-34C>G
ENST00000700203.1:n.1098C>G
ENST00000380152.8:c.8971C>G MANE Select	ENSP00000369497.3:p.Arg2991Gly
ENST00000544455.6:c.8971C>G	ENSP00000439902.1:p.Arg2991Gly
ENST00000614259.2:c.8979C>G	ENSP00000506251.1:n.8979C>G
ENST00000665585.1:c.1849C>G
ENST00000680887.1:c.8971C>G	ENSP00000505508.1:p.Arg2991Gly
ENST00000380152.7:c.8971C>G	ENSP00000369497.3:p.Arg2991Gly
ENST00000544455.5:c.8971C>G	ENSP00000439902.1:p.Arg2991Gly
NM_000059.3:c.8971C>G , LRG_293t1:c.8971C>G	NP_000050.2:p.Arg2991Gly
XM_011535203.1:c.8971C>G	XP_011533505.1:p.Arg2991Gly
XM_011535204.1:c.8875C>G	XP_011533506.1:p.Arg2959Gly
XM_011535205.1:c.*9C>G	XP_011533507.1:n.*9C>G
NM_000059.4:c.8971C>G MANE Select	NP_000050.3:p.Arg2991Gly