Canonical Allele Identifier: CA023166
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 51930
dbSNP Id: rs80358805

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32326557T>C , CM000675.2:g.32326557T>C GRCh38
NC_000013.10:g.32900694T>C , CM000675.1:g.32900694T>C GRCh37
NC_000013.9:g.31798694T>C NCBI36
NG_012772.3:g.16078T>C , LRG_293:g.16078T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.575T>C ENSP00000434898.2:p.Met192Thr
ENST00000528762.2:c.575T>C ENSP00000433168.2:p.Met192Thr
ENST00000530893.7:c.206T>C ENSP00000499438.2:p.Met69Thr
ENST00000665585.2:c.575T>C ENSP00000499570.2:p.Met192Thr
ENST00000666593.2:c.575T>C ENSP00000499256.2:p.Met192Thr
ENST00000700202.2:c.575T>C ENSP00000514856.2:p.Met192Thr
ENST00000700200.1:n.446T>C
ENST00000700201.1:c.*354T>C ENSP00000514855.1:n.*354T>C
ENST00000380152.8:c.575T>C MANE Select ENSP00000369497.3:p.Met192Thr
ENST00000544455.6:c.575T>C ENSP00000439902.1:p.Met192Thr
ENST00000614259.2:c.575T>C ENSP00000506251.1:p.Met192Thr
ENST00000680887.1:c.575T>C ENSP00000505508.1:p.Met192Thr
ENST00000380152.7:c.575T>C ENSP00000369497.3:p.Met192Thr
ENST00000530893.6:n.773T>C
ENST00000544455.5:c.575T>C ENSP00000439902.1:p.Met192Thr
ENST00000614259.1:n.575T>C
NM_000059.3:c.575T>C , LRG_293t1:c.575T>C NP_000050.2:p.Met192Thr
XM_011535203.1:c.575T>C XP_011533505.1:p.Met192Thr
XM_011535204.1:c.575T>C XP_011533506.1:p.Met192Thr
XM_011535205.1:c.575T>C XP_011533507.1:p.Met192Thr
NM_000059.4:c.575T>C MANE Select NP_000050.3:p.Met192Thr