Canonical Allele Identifier: CA2577648159
Gene: TXNRD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19895143_19895145del , CM000684.2:g.19895143_19895145del GRCh38
NC_000022.10:g.19882666_19882668del , CM000684.1:g.19882666_19882668del GRCh37
NC_000022.9:g.18262666_18262668del NCBI36
NG_011835.1:g.51692_51694del , LRG_417:g.51692_51694del

Transcript Alleles

HGVS Amino-acid Change
ENST00000400521.7:c.949+262_949+264del MANE Select ENSP00000383365.1:n.949+262_949+264del
ENST00000334363.14:c.1005_1007del ENSP00000334451.9:p.Arg336del
ENST00000400518.5:c.859+262_859+264del ENSP00000383362.1:n.859+262_859+264del
ENST00000400519.6:c.946+262_946+264del ENSP00000383363.1:n.946+262_946+264del
ENST00000400521.6:c.949+262_949+264del ENSP00000383365.1:n.949+262_949+264del
ENST00000400525.6:c.880+262_880+264del ENSP00000383369.3:n.880+262_880+264del
ENST00000474308.5:c.892+262_892+264del ENSP00000485665.1:n.892+262_892+264del
ENST00000475995.3:c.622_624del
ENST00000491939.6:c.909_911del ENSP00000485543.1:p.Arg304del
ENST00000494454.5:n.1023+262_1023+264del
ENST00000542719.6:c.661+262_661+264del ENSP00000485128.2:n.661+262_661+264del
ENST00000634537.1:c.178+262_178+264del ENSP00000489208.1:n.178+262_178+264del
ENST00000635155.1:n.535+262_535+264del
NM_001282512.1:c.1005_1007del NP_001269441.1:p.Arg336del
NM_006440.4:c.949+262_949+264del NP_006431.2:n.949+262_949+264del
NM_001282512.2:c.1005_1007del NP_001269441.1:p.Arg336del
NM_001352300.1:c.946+262_946+264del NP_001339229.1:n.946+262_946+264del
NM_001352301.1:c.859+262_859+264del NP_001339230.1:n.859+262_859+264del
NM_001352302.1:c.661+262_661+264del NP_001339231.1:n.661+262_661+264del
NM_001352303.1:c.909_911del NP_001339232.1:p.Arg304del
NR_147957.1:n.1081+262_1081+264del
NM_006440.5:c.949+262_949+264del MANE Select NP_006431.2:n.949+262_949+264del
NM_001282512.3:c.1005_1007del NP_001269441.1:p.Arg336del
NM_001352300.2:c.946+262_946+264del NP_001339229.1:n.946+262_946+264del
NR_147957.2:n.907+262_907+264del
NM_001352301.2:c.859+262_859+264del NP_001339230.1:n.859+262_859+264del
NM_001352302.2:c.661+262_661+264del NP_001339231.1:n.661+262_661+264del
NM_001352303.2:c.909_911del NP_001339232.1:p.Arg304del