Canonical Allele Identifier: CA387756492

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 479307
• ClinVar RCV Id: RCV000566728
• dbSNP Id: rs1555288392
• MyVariant Identifiers: chr13:g.32953590G>A (hg19) ; chr13:g.32379453G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379453G>A , CM000675.2:g.32379453G>A	GRCh38
NC_000013.10:g.32953590G>A , CM000675.1:g.32953590G>A	GRCh37
NC_000013.9:g.31851590G>A	NCBI36
NG_012772.3:g.68974G>A , LRG_293:g.68974G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8891G>A	ENSP00000434898.2:p.Arg2964Lys
ENST00000528762.2:c.*258G>A	ENSP00000433168.2:n.*258G>A
ENST00000530893.7:c.8522G>A	ENSP00000499438.2:p.Arg2841Lys
ENST00000665585.2:c.*453G>A	ENSP00000499570.2:n.*453G>A
ENST00000666593.2:c.8891G>A	ENSP00000499256.2:p.Arg2964Lys
ENST00000700202.2:c.8891G>A	ENSP00000514856.2:p.Arg2964Lys
ENST00000700202.1:c.1358G>A	ENSP00000514856.1:p.Arg453Lys
ENST00000700203.1:n.1018G>A
ENST00000380152.8:c.8891G>A MANE Select	ENSP00000369497.3:p.Arg2964Lys
ENST00000544455.6:c.8891G>A	ENSP00000439902.1:p.Arg2964Lys
ENST00000614259.2:c.8899G>A	ENSP00000506251.1:n.8899G>A
ENST00000665585.1:c.1769G>A
ENST00000680887.1:c.8891G>A	ENSP00000505508.1:p.Arg2964Lys
ENST00000380152.7:c.8891G>A	ENSP00000369497.3:p.Arg2964Lys
ENST00000528762.1:c.453G>A	ENSP00000433168.1:n.453G>A
ENST00000544455.5:c.8891G>A	ENSP00000439902.1:p.Arg2964Lys
NM_000059.3:c.8891G>A , LRG_293t1:c.8891G>A	NP_000050.2:p.Arg2964Lys
XM_011535203.1:c.8891G>A	XP_011533505.1:p.Arg2964Lys
XM_011535204.1:c.8795G>A	XP_011533506.1:p.Arg2932Lys
XM_011535205.1:c.8755-297G>A	XP_011533507.1:n.8755-297G>A
NM_000059.4:c.8891G>A MANE Select	NP_000050.3:p.Arg2964Lys