Canonical Allele Identifier: CA387767590

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1491201
• ClinVar RCV Id: RCV001986350
• dbSNP Id: rs2137665567
• MyVariant Identifiers: chr13:g.32972638G>A (hg19) ; chr13:g.32398501G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398501G>A , CM000675.2:g.32398501G>A	GRCh38
NC_000013.10:g.32972638G>A , CM000675.1:g.32972638G>A	GRCh37
NC_000013.9:g.31870638G>A	NCBI36
NG_012772.3:g.88022G>A , LRG_293:g.88022G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*511G>A	ENSP00000434898.2:n.*511G>A
ENST00000528762.2:c.*1355G>A	ENSP00000433168.2:n.*1355G>A
ENST00000530893.7:c.9619G>A	ENSP00000499438.2:p.Glu3207Lys
ENST00000665585.2:c.*1550G>A	ENSP00000499570.2:n.*1550G>A
ENST00000700202.2:c.9937G>A	ENSP00000514856.2:p.Glu3313Lys
ENST00000700202.1:c.2404G>A	ENSP00000514856.1:p.Glu802Lys
ENST00000700203.1:n.2115G>A
ENST00000380152.8:c.9988G>A MANE Select	ENSP00000369497.3:p.Glu3330Lys
ENST00000544455.6:c.9988G>A	ENSP00000439902.1:p.Glu3330Lys
ENST00000614259.2:c.9996G>A	ENSP00000506251.1:n.9996G>A
ENST00000680887.1:c.9988G>A	ENSP00000505508.1:p.Glu3330Lys
ENST00000380152.7:c.9988G>A	ENSP00000369497.3:p.Glu3330Lys
ENST00000544455.5:c.9988G>A	ENSP00000439902.1:p.Glu3330Lys
NM_000059.3:c.9988G>A , LRG_293t1:c.9988G>A	NP_000050.2:p.Glu3330Lys
XM_011535203.1:c.9988G>A	XP_011533505.1:p.Glu3330Lys
XM_011535204.1:c.9892G>A	XP_011533506.1:p.Glu3298Lys
NM_000059.4:c.9988G>A MANE Select	NP_000050.3:p.Glu3330Lys