Canonical Allele Identifier: CA025309

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52427
• ClinVar RCV Id: RCV000045330 ; RCV000241188
• dbSNP Id: rs397507941
• MyVariant Identifiers: chr13:g.32936710G>A (hg19) ; chr13:g.32362573G>A (hg38)
• PubMed: PMID:16234499 ; PMID:21318380

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362573G>A , CM000675.2:g.32362573G>A	GRCh38
NC_000013.10:g.32936710G>A , CM000675.1:g.32936710G>A	GRCh37
NC_000013.9:g.31834710G>A	NCBI36
NG_012772.3:g.52094G>A , LRG_293:g.52094G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.7856G>A	ENSP00000434898.2:p.Trp2619Ter
ENST00000528762.2:c.7856G>A	ENSP00000433168.2:p.Trp2619Ter
ENST00000530893.7:c.7487G>A	ENSP00000499438.2:p.Trp2496Ter
ENST00000665585.2:c.7856G>A	ENSP00000499570.2:p.Trp2619Ter
ENST00000666593.2:c.7856G>A	ENSP00000499256.2:p.Trp2619Ter
ENST00000700202.2:c.7856G>A	ENSP00000514856.2:p.Trp2619Ter
ENST00000700202.1:c.323G>A	ENSP00000514856.1:p.Trp108Ter
ENST00000380152.8:c.7856G>A MANE Select	ENSP00000369497.3:p.Trp2619Ter
ENST00000544455.6:c.7856G>A	ENSP00000439902.1:p.Trp2619Ter
ENST00000614259.2:c.7864G>A	ENSP00000506251.1:p.Gly2622Arg
ENST00000665585.1:c.421G>A
ENST00000680887.1:c.7856G>A	ENSP00000505508.1:p.Trp2619Ter
ENST00000380152.7:c.7856G>A	ENSP00000369497.3:p.Trp2619Ter
ENST00000544455.5:c.7856G>A	ENSP00000439902.1:p.Trp2619Ter
ENST00000614259.1:n.7864G>A
NM_000059.3:c.7856G>A , LRG_293t1:c.7856G>A	NP_000050.2:p.Trp2619Ter
XM_011535203.1:c.7856G>A	XP_011533505.1:p.Trp2619Ter
XM_011535204.1:c.7760G>A	XP_011533506.1:p.Trp2587Ter
XM_011535205.1:c.7856G>A	XP_011533507.1:p.Trp2619Ter
NM_000059.4:c.7856G>A MANE Select	NP_000050.3:p.Trp2619Ter