Canonical Allele Identifier: CA387765772

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 491391
• ClinVar RCV Id: RCV000583110 ; RCV003645069
• dbSNP Id: rs1555289952
• MyVariant Identifiers: chr13:g.32972416G>A (hg19) ; chr13:g.32398279G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398279G>A , CM000675.2:g.32398279G>A	GRCh38
NC_000013.10:g.32972416G>A , CM000675.1:g.32972416G>A	GRCh37
NC_000013.9:g.31870416G>A	NCBI36
NG_012772.3:g.87800G>A , LRG_293:g.87800G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*289G>A	ENSP00000434898.2:n.*289G>A
ENST00000528762.2:c.*1133G>A	ENSP00000433168.2:n.*1133G>A
ENST00000530893.7:c.9397G>A	ENSP00000499438.2:p.Glu3133Lys
ENST00000665585.2:c.*1328G>A	ENSP00000499570.2:n.*1328G>A
ENST00000700202.2:c.9715G>A	ENSP00000514856.2:p.Glu3239Lys
ENST00000700202.1:c.2182G>A	ENSP00000514856.1:p.Glu728Lys
ENST00000700203.1:n.1893G>A
ENST00000380152.8:c.9766G>A MANE Select	ENSP00000369497.3:p.Glu3256Lys
ENST00000544455.6:c.9766G>A	ENSP00000439902.1:p.Glu3256Lys
ENST00000614259.2:c.9774G>A	ENSP00000506251.1:n.9774G>A
ENST00000680887.1:c.9766G>A	ENSP00000505508.1:p.Glu3256Lys
ENST00000380152.7:c.9766G>A	ENSP00000369497.3:p.Glu3256Lys
ENST00000533776.1:n.354G>A
ENST00000544455.5:c.9766G>A	ENSP00000439902.1:p.Glu3256Lys
NM_000059.3:c.9766G>A , LRG_293t1:c.9766G>A	NP_000050.2:p.Glu3256Lys
XM_011535203.1:c.9766G>A	XP_011533505.1:p.Glu3256Lys
XM_011535204.1:c.9670G>A	XP_011533506.1:p.Glu3224Lys
NM_000059.4:c.9766G>A MANE Select	NP_000050.3:p.Glu3256Lys