Canonical Allele Identifier: CA609092852
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 485427
dbSNP Id: rs1283205861

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32376667T>G , CM000675.2:g.32376667T>G GRCh38
NC_000013.10:g.32950804T>G , CM000675.1:g.32950804T>G GRCh37
NC_000013.9:g.31848804T>G NCBI36
NG_012772.3:g.66188T>G , LRG_293:g.66188T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8633-3T>G ENSP00000434898.2:n.8633-3T>G
ENST00000528762.2:c.8697-3T>G ENSP00000433168.2:n.8697-3T>G
ENST00000530893.7:c.8264-3T>G ENSP00000499438.2:n.8264-3T>G
ENST00000665585.2:c.*195-3T>G ENSP00000499570.2:n.*195-3T>G
ENST00000666593.2:c.8633-3T>G ENSP00000499256.2:n.8633-3T>G
ENST00000700202.2:c.8633-3T>G ENSP00000514856.2:n.8633-3T>G
ENST00000700202.1:c.1100-3T>G ENSP00000514856.1:n.1100-3T>G
ENST00000700203.1:n.757T>G
ENST00000380152.8:c.8633-3T>G MANE Select ENSP00000369497.3:n.8633-3T>G
ENST00000544455.6:c.8633-3T>G ENSP00000439902.1:n.8633-3T>G
ENST00000614259.2:c.8641-3T>G ENSP00000506251.1:n.8641-3T>G
ENST00000665585.1:c.1511-3T>G
ENST00000680887.1:c.8633-3T>G ENSP00000505508.1:n.8633-3T>G
ENST00000380152.7:c.8633-3T>G ENSP00000369497.3:n.8633-3T>G
ENST00000528762.1:c.195-3T>G ENSP00000433168.1:n.195-3T>G
ENST00000544455.5:c.8633-3T>G ENSP00000439902.1:n.8633-3T>G
NM_000059.3:c.8633-3T>G , LRG_293t1:c.8633-3T>G NP_000050.2:n.8633-3T>G
XM_011535203.1:c.8633-3T>G XP_011533505.1:n.8633-3T>G
XM_011535204.1:c.8537-3T>G XP_011533506.1:n.8537-3T>G
XM_011535205.1:c.8633-3T>G XP_011533507.1:n.8633-3T>G
NM_000059.4:c.8633-3T>G MANE Select NP_000050.3:n.8633-3T>G