Canonical Allele Identifier: CA387752642
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs1593930555

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32370553T>C , CM000675.2:g.32370553T>C GRCh38
NC_000013.10:g.32944690T>C , CM000675.1:g.32944690T>C GRCh37
NC_000013.9:g.31842690T>C NCBI36
NG_012772.3:g.60074T>C , LRG_293:g.60074T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8483T>C ENSP00000434898.2:p.Ile2828Thr
ENST00000528762.2:c.8483T>C ENSP00000433168.2:p.Ile2828Thr
ENST00000530893.7:c.8114T>C ENSP00000499438.2:p.Ile2705Thr
ENST00000665585.2:c.8483T>C ENSP00000499570.2:p.Ile2828Thr
ENST00000666593.2:c.8483T>C ENSP00000499256.2:p.Ile2828Thr
ENST00000700202.2:c.8483T>C ENSP00000514856.2:p.Ile2828Thr
ENST00000700202.1:c.950T>C ENSP00000514856.1:p.Ile317Thr
ENST00000380152.8:c.8483T>C MANE Select ENSP00000369497.3:p.Ile2828Thr
ENST00000544455.6:c.8483T>C ENSP00000439902.1:p.Ile2828Thr
ENST00000614259.2:c.8491T>C ENSP00000506251.1:n.8491T>C
ENST00000665585.1:c.1048T>C
ENST00000680887.1:c.8483T>C ENSP00000505508.1:p.Ile2828Thr
ENST00000380152.7:c.8483T>C ENSP00000369497.3:p.Ile2828Thr
ENST00000544455.5:c.8483T>C ENSP00000439902.1:p.Ile2828Thr
NM_000059.3:c.8483T>C , LRG_293t1:c.8483T>C NP_000050.2:p.Ile2828Thr
XM_011535203.1:c.8483T>C XP_011533505.1:p.Ile2828Thr
XM_011535204.1:c.8387T>C XP_011533506.1:p.Ile2796Thr
XM_011535205.1:c.8483T>C XP_011533507.1:p.Ile2828Thr
NM_000059.4:c.8483T>C MANE Select NP_000050.3:p.Ile2828Thr