Canonical Allele Identifier: CA16616554
Gene: TXNRD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 414280
ClinVar RCV Id: RCV001393980
dbSNP Id: rs1060504228

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19895417C>T , CM000684.2:g.19895417C>T GRCh38
NC_000022.10:g.19882940C>T , CM000684.1:g.19882940C>T GRCh37
NC_000022.9:g.18262940C>T NCBI36
NG_011835.1:g.51420G>A , LRG_417:g.51420G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000400521.7:c.939G>A MANE Select ENSP00000383365.1:p.Leu313=
ENST00000334363.14:c.939G>A ENSP00000334451.9:p.Leu313=
ENST00000400518.5:c.849G>A ENSP00000383362.1:p.Leu283=
ENST00000400519.6:c.936G>A ENSP00000383363.1:p.Leu312=
ENST00000400521.6:c.939G>A ENSP00000383365.1:p.Leu313=
ENST00000400525.6:c.870G>A ENSP00000383369.3:p.Leu290=
ENST00000474308.5:c.882G>A ENSP00000485665.1:p.Leu294=
ENST00000475995.3:c.436G>A
ENST00000491939.6:c.843G>A ENSP00000485543.1:p.Leu281=
ENST00000494454.5:n.1013G>A
ENST00000542719.6:c.651G>A ENSP00000485128.2:p.Leu217=
ENST00000634537.1:c.168G>A ENSP00000489208.1:p.Leu56=
ENST00000635155.1:n.525G>A
NM_001282512.1:c.939G>A NP_001269441.1:p.Leu313=
NM_006440.4:c.939G>A NP_006431.2:p.Leu313=
NM_001282512.2:c.939G>A NP_001269441.1:p.Leu313=
NM_001352300.1:c.936G>A NP_001339229.1:p.Leu312=
NM_001352301.1:c.849G>A NP_001339230.1:p.Leu283=
NM_001352302.1:c.651G>A NP_001339231.1:p.Leu217=
NM_001352303.1:c.843G>A NP_001339232.1:p.Leu281=
NR_147957.1:n.1071G>A
NM_006440.5:c.939G>A MANE Select NP_006431.2:p.Leu313=
NM_001282512.3:c.939G>A NP_001269441.1:p.Leu313=
NM_001352300.2:c.936G>A NP_001339229.1:p.Leu312=
NR_147957.2:n.897G>A
NM_001352301.2:c.849G>A NP_001339230.1:p.Leu283=
NM_001352302.2:c.651G>A NP_001339231.1:p.Leu217=
NM_001352303.2:c.843G>A NP_001339232.1:p.Leu281=