Canonical Allele Identifier: CA026041
Gene: BRCA2 HGNC NCBI

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
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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
Search 100 bp 5'
Search 100 bp 3'