Canonical Allele Identifier: CA387768277

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1692102
• ClinVar RCV Id: RCV002259190
• dbSNP Id: rs2137667403
• MyVariant Identifiers: chr13:g.32972827G>A (hg19) ; chr13:g.32398690G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398690G>A , CM000675.2:g.32398690G>A	GRCh38
NC_000013.10:g.32972827G>A , CM000675.1:g.32972827G>A	GRCh37
NC_000013.9:g.31870827G>A	NCBI36
NG_012772.3:g.88211G>A , LRG_293:g.88211G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*700G>A	ENSP00000434898.2:n.*700G>A
ENST00000528762.2:c.*1544G>A	ENSP00000433168.2:n.*1544G>A
ENST00000530893.7:c.9808G>A	ENSP00000499438.2:p.Glu3270Lys
ENST00000665585.2:c.*1739G>A	ENSP00000499570.2:n.*1739G>A
ENST00000700202.2:c.10126G>A	ENSP00000514856.2:p.Glu3376Lys
ENST00000700202.1:c.2593G>A	ENSP00000514856.1:p.Glu865Lys
ENST00000700203.1:n.2304G>A
ENST00000380152.8:c.10177G>A MANE Select	ENSP00000369497.3:p.Glu3393Lys
ENST00000544455.6:c.10177G>A	ENSP00000439902.1:p.Glu3393Lys
ENST00000614259.2:c.10185G>A	ENSP00000506251.1:n.10185G>A
ENST00000680887.1:c.10177G>A	ENSP00000505508.1:p.Glu3393Lys
ENST00000380152.7:c.10177G>A	ENSP00000369497.3:p.Glu3393Lys
ENST00000544455.5:c.10177G>A	ENSP00000439902.1:p.Glu3393Lys
NM_000059.3:c.10177G>A , LRG_293t1:c.10177G>A	NP_000050.2:p.Glu3393Lys
XM_011535203.1:c.10177G>A	XP_011533505.1:p.Glu3393Lys
XM_011535204.1:c.10081G>A	XP_011533506.1:p.Glu3361Lys
NM_000059.4:c.10177G>A MANE Select	NP_000050.3:p.Glu3393Lys