Canonical Allele Identifier: CA025679

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52605
• ClinVar RCV Id: RCV000077442 ; RCV000222775 ; RCV000484831 ; RCV000569959 ; RCV003473423
• dbSNP Id: rs80359101
• MyVariant Identifiers: chr13:g.32945094G>A (hg19) ; chr13:g.32370957G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370957G>A , CM000675.2:g.32370957G>A	GRCh38
NC_000013.10:g.32945094G>A , CM000675.1:g.32945094G>A	GRCh37
NC_000013.9:g.31843094G>A	NCBI36
NG_012772.3:g.60478G>A , LRG_293:g.60478G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8489G>A	ENSP00000434898.2:p.Trp2830Ter
ENST00000528762.2:c.8489G>A	ENSP00000433168.2:p.Trp2830Ter
ENST00000530893.7:c.8120G>A	ENSP00000499438.2:p.Trp2707Ter
ENST00000665585.2:c.8489G>A	ENSP00000499570.2:p.Trp2830Ter
ENST00000666593.2:c.8489G>A	ENSP00000499256.2:p.Trp2830Ter
ENST00000700202.2:c.8489G>A	ENSP00000514856.2:p.Trp2830Ter
ENST00000700202.1:c.956G>A	ENSP00000514856.1:p.Trp319Ter
ENST00000380152.8:c.8489G>A MANE Select	ENSP00000369497.3:p.Trp2830Ter
ENST00000544455.6:c.8489G>A	ENSP00000439902.1:p.Trp2830Ter
ENST00000614259.2:c.8497G>A	ENSP00000506251.1:n.8497G>A
ENST00000665585.1:c.1054G>A
ENST00000680887.1:c.8489G>A	ENSP00000505508.1:p.Trp2830Ter
ENST00000380152.7:c.8489G>A	ENSP00000369497.3:p.Trp2830Ter
ENST00000544455.5:c.8489G>A	ENSP00000439902.1:p.Trp2830Ter
NM_000059.3:c.8489G>A , LRG_293t1:c.8489G>A	NP_000050.2:p.Trp2830Ter
XM_011535203.1:c.8489G>A	XP_011533505.1:p.Trp2830Ter
XM_011535204.1:c.8393G>A	XP_011533506.1:p.Trp2798Ter
XM_011535205.1:c.8489G>A	XP_011533507.1:p.Trp2830Ter
NM_000059.4:c.8489G>A MANE Select	NP_000050.3:p.Trp2830Ter