Canonical Allele Identifier: CA026041

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 126203
• ClinVar RCV Id: RCV000114070 ; RCV000130070 ; RCV000472340
• dbSNP Id: rs80359187
• MyVariant Identifiers: chr13:g.32954253G>T (hg19) ; chr13:g.32380116G>T (hg38)
• ERepo: CA026041/MONDO:0012933/097 ; CA026041/MONDO:0700269/097
• PubMed: PMID:19043619 ; PMID:24323938

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380116G>T , CM000675.2:g.32380116G>T	GRCh38
NC_000013.10:g.32954253G>T , CM000675.1:g.32954253G>T	GRCh37
NC_000013.9:g.31852253G>T	NCBI36
NG_012772.3:g.69637G>T , LRG_293:g.69637G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9227G>T	ENSP00000434898.2:p.Gly3076Val
ENST00000528762.2:c.*594G>T	ENSP00000433168.2:n.*594G>T
ENST00000530893.7:c.8858G>T	ENSP00000499438.2:p.Gly2953Val
ENST00000665585.2:c.*789G>T	ENSP00000499570.2:n.*789G>T
ENST00000666593.2:c.9227G>T	ENSP00000499256.2:p.Gly3076Val
ENST00000700202.2:c.9176G>T	ENSP00000514856.2:p.Gly3059Val
ENST00000700202.1:c.1643G>T	ENSP00000514856.1:p.Gly548Val
ENST00000700203.1:n.1354G>T
ENST00000380152.8:c.9227G>T MANE Select	ENSP00000369497.3:p.Gly3076Val
ENST00000544455.6:c.9227G>T	ENSP00000439902.1:p.Gly3076Val
ENST00000614259.2:c.9235G>T	ENSP00000506251.1:n.9235G>T
ENST00000665585.1:c.2105G>T
ENST00000666593.1:c.110G>T	ENSP00000499256.1:p.Gly37Val
ENST00000680887.1:c.9227G>T	ENSP00000505508.1:p.Gly3076Val
ENST00000380152.7:c.9227G>T	ENSP00000369497.3:p.Gly3076Val
ENST00000470094.1:c.184G>T
ENST00000544455.5:c.9227G>T	ENSP00000439902.1:p.Gly3076Val
NM_000059.3:c.9227G>T , LRG_293t1:c.9227G>T	NP_000050.2:p.Gly3076Val
XM_011535203.1:c.9227G>T	XP_011533505.1:p.Gly3076Val
XM_011535204.1:c.9131G>T	XP_011533506.1:p.Gly3044Val
NM_000059.4:c.9227G>T MANE Select	NP_000050.3:p.Gly3076Val