Canonical Allele Identifier: CA247478059
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 434531
dbSNP Id: rs556172218

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32315519C>T , CM000675.2:g.32315519C>T GRCh38
NC_000013.10:g.32889656C>T , CM000675.1:g.32889656C>T GRCh37
NC_000013.9:g.31787656C>T NCBI36
NG_012772.3:g.5040C>T , LRG_293:g.5040C>T
NG_017006.1:g.1436G>A
NG_017006.2:g.4845G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.-188C>T ENSP00000434898.2:n.-188C>T
ENST00000528762.2:c.-188C>T ENSP00000433168.2:n.-188C>T
ENST00000530893.7:c.-553C>T ENSP00000499438.2:n.-553C>T
ENST00000665585.2:c.-188C>T ENSP00000499570.2:n.-188C>T
ENST00000666593.2:c.-188C>T ENSP00000499256.2:n.-188C>T
ENST00000700202.2:c.-188C>T ENSP00000514856.2:n.-188C>T
ENST00000380152.8:c.-188C>T MANE Select ENSP00000369497.3:n.-188C>T
ENST00000544455.6:c.-40+374C>T ENSP00000439902.1:n.-40+374C>T
ENST00000380152.7:c.-188C>T ENSP00000369497.3:n.-188C>T
ENST00000530893.6:n.15C>T
ENST00000544455.5:c.-188C>T ENSP00000439902.1:n.-188C>T
NM_000059.3:c.-188C>T , LRG_293t1:c.-188C>T NP_000050.2:n.-188C>T
XM_011535203.1:c.-40+374C>T XP_011533505.1:n.-40+374C>T
XM_011535204.1:c.-188C>T XP_011533506.1:n.-188C>T
XM_011535205.1:c.-188C>T XP_011533507.1:n.-188C>T
NM_000059.4:c.-188C>T MANE Select NP_000050.3:n.-188C>T