Canonical Allele Identifier: CA483440209
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 481579
dbSNP Id: rs1555289984

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398386T>C , CM000675.2:g.32398386T>C GRCh38
NC_000013.10:g.32972523T>C , CM000675.1:g.32972523T>C GRCh37
NC_000013.9:g.31870523T>C NCBI36
NG_012772.3:g.87907T>C , LRG_293:g.87907T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*396T>C ENSP00000434898.2:n.*396T>C
ENST00000528762.2:c.*1240T>C ENSP00000433168.2:n.*1240T>C
ENST00000530893.7:c.9504T>C ENSP00000499438.2:p.Ser3168=
ENST00000665585.2:c.*1435T>C ENSP00000499570.2:n.*1435T>C
ENST00000700202.2:c.9822T>C ENSP00000514856.2:p.Ser3274=
ENST00000700202.1:c.2289T>C ENSP00000514856.1:p.Ser763=
ENST00000700203.1:n.2000T>C
ENST00000380152.8:c.9873T>C MANE Select ENSP00000369497.3:p.Ser3291=
ENST00000544455.6:c.9873T>C ENSP00000439902.1:p.Ser3291=
ENST00000614259.2:c.9881T>C ENSP00000506251.1:n.9881T>C
ENST00000680887.1:c.9873T>C ENSP00000505508.1:p.Ser3291=
ENST00000380152.7:c.9873T>C ENSP00000369497.3:p.Ser3291=
ENST00000533776.1:n.461T>C
ENST00000544455.5:c.9873T>C ENSP00000439902.1:p.Ser3291=
NM_000059.3:c.9873T>C , LRG_293t1:c.9873T>C NP_000050.2:p.Ser3291=
XM_011535203.1:c.9873T>C XP_011533505.1:p.Ser3291=
XM_011535204.1:c.9777T>C XP_011533506.1:p.Ser3259=
NM_000059.4:c.9873T>C MANE Select NP_000050.3:p.Ser3291=