Canonical Allele Identifier: CA025952
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379856_32379857insTT , CM000675.2:g.32379856_32379857insTT GRCh38
NC_000013.10:g.32953993_32953994insTT , CM000675.1:g.32953993_32953994insTT GRCh37
NC_000013.9:g.31851993_31851994insTT NCBI36
NG_012772.3:g.69377_69378insTT , LRG_293:g.69377_69378insTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9060_9061insTT ENSP00000434898.2:p.Glu3021LeufsTer8
ENST00000528762.2:c.*427_*428insTT ENSP00000433168.2:n.*427_*428insTT
ENST00000530893.7:c.8691_8692insTT ENSP00000499438.2:p.Glu2898LeufsTer8
ENST00000665585.2:c.*622_*623insTT ENSP00000499570.2:n.*622_*623insTT
ENST00000666593.2:c.9060_9061insTT ENSP00000499256.2:p.Glu3021LeufsTer8
ENST00000700202.2:c.9009_9010insTT ENSP00000514856.2:p.Glu3004LeufsTer8
ENST00000700202.1:c.1476_1477insTT ENSP00000514856.1:p.Glu493LeufsTer8
ENST00000700203.1:n.1187_1188insTT
ENST00000380152.8:c.9060_9061insTT MANE Select ENSP00000369497.3:p.Glu3021LeufsTer8
ENST00000544455.6:c.9060_9061insTT ENSP00000439902.1:p.Glu3021LeufsTer8
ENST00000614259.2:c.9068_9069insTT ENSP00000506251.1:n.9068_9069insTT
ENST00000665585.1:c.1938_1939insTT
ENST00000680887.1:c.9060_9061insTT ENSP00000505508.1:p.Glu3021LeufsTer8
ENST00000380152.7:c.9060_9061insTT ENSP00000369497.3:p.Glu3021LeufsTer8
ENST00000470094.1:c.17_18insTT
ENST00000544455.5:c.9060_9061insTT ENSP00000439902.1:p.Glu3021LeufsTer8
NM_000059.3:c.9060_9061insTT , LRG_293t1:c.9060_9061insTT NP_000050.2:p.Glu3021LeufsTer8
XM_011535203.1:c.9060_9061insTT XP_011533505.1:p.Glu3021LeufsTer8
XM_011535204.1:c.8964_8965insTT XP_011533506.1:p.Glu2989LeufsTer8
NM_000059.4:c.9060_9061insTT MANE Select NP_000050.3:p.Glu3021LeufsTer8