Canonical Allele Identifier: CA068118
Gene: TXNRD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 222882
dbSNP Id: rs373979810

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19918998C>T , CM000684.2:g.19918998C>T GRCh38
NC_000022.10:g.19906521C>T , CM000684.1:g.19906521C>T GRCh37
NC_000022.9:g.18286521C>T NCBI36
NG_011835.1:g.27839G>A , LRG_417:g.27839G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000400521.7:c.236G>A MANE Select ENSP00000383365.1:p.Arg79Gln
ENST00000334363.14:c.236G>A ENSP00000334451.9:p.Arg79Gln
ENST00000400518.5:c.146G>A ENSP00000383362.1:p.Arg49Gln
ENST00000400519.6:n.233G>A ENSP00000383363.1:p.Arg78Gln
ENST00000400521.6:c.236G>A ENSP00000383365.1:p.Arg79Gln
ENST00000400525.6:c.167G>A ENSP00000383369.3:p.Arg56Gln
ENST00000474308.5:c.179G>A ENSP00000485665.1:p.Arg60Gln
ENST00000491939.6:c.140G>A ENSP00000485543.1:p.Arg47Gln
ENST00000496729.2:n.241G>A
ENST00000542719.6:c.-53G>A ENSP00000485128.2:p.=
NM_001282512.1:c.236G>A NP_001269441.1:p.Arg79Gln
NM_006440.4:c.236G>A NP_006431.2:p.Arg79Gln
NM_001282512.2:c.236G>A NP_001269441.1:p.Arg79Gln
NM_001352300.1:c.233G>A NP_001339229.1:p.Arg78Gln
NM_001352301.1:c.146G>A NP_001339230.1:p.Arg49Gln
NM_001352302.1:c.-53G>A NP_001339231.1:p.=
NM_001352303.1:c.140G>A NP_001339232.1:p.Arg47Gln
NR_147957.1:n.368G>A
NM_006440.5:c.236G>A MANE Select NP_006431.2:p.Arg79Gln
NM_001282512.3:c.236G>A NP_001269441.1:p.Arg79Gln
NM_001352300.2:c.233G>A NP_001339229.1:p.Arg78Gln
NR_147957.2:n.194G>A
NM_001352301.2:c.146G>A NP_001339230.1:p.Arg49Gln
NM_001352302.2:c.-53G>A NP_001339231.1:p.=
NM_001352303.2:c.140G>A NP_001339232.1:p.Arg47Gln