Canonical Allele Identifier: CA10104123
Gene: TXNRD2 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19915220G>C , CM000684.2:g.19915220G>C GRCh38
NC_000022.10:g.19902743G>C , CM000684.1:g.19902743G>C GRCh37
NC_000022.9:g.18282743G>C NCBI36
NG_011835.1:g.31617C>G , LRG_417:g.31617C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000400521.7:c.585C>G MANE Select ENSP00000383365.1:p.Pro195=
ENST00000334363.14:c.585C>G ENSP00000334451.9:p.Pro195=
ENST00000400518.5:c.495C>G ENSP00000383362.1:p.Pro165=
ENST00000400519.6:c.582C>G ENSP00000383363.1:p.Pro194=
ENST00000400521.6:c.585C>G ENSP00000383365.1:p.Pro195=
ENST00000400525.6:c.516C>G ENSP00000383369.3:p.Pro172=
ENST00000471835.1:n.130C>G
ENST00000474308.5:c.528C>G ENSP00000485665.1:p.Pro176=
ENST00000475995.3:c.82C>G
ENST00000484672.5:n.215C>G
ENST00000491939.6:c.489C>G ENSP00000485543.1:p.Pro163=
ENST00000494454.5:n.659C>G
ENST00000496729.2:n.590C>G
ENST00000542719.6:c.297C>G ENSP00000485128.2:p.Pro99=
ENST00000635155.1:n.171C>G
NM_001282512.1:c.585C>G NP_001269441.1:p.Pro195=
NM_006440.4:c.585C>G NP_006431.2:p.Pro195=
NM_001282512.2:c.585C>G NP_001269441.1:p.Pro195=
NM_001352300.1:c.582C>G NP_001339229.1:p.Pro194=
NM_001352301.1:c.495C>G NP_001339230.1:p.Pro165=
NM_001352302.1:c.297C>G NP_001339231.1:p.Pro99=
NM_001352303.1:c.489C>G NP_001339232.1:p.Pro163=
NR_147957.1:n.717C>G
NM_006440.5:c.585C>G MANE Select NP_006431.2:p.Pro195=
NM_001282512.3:c.585C>G NP_001269441.1:p.Pro195=
NM_001352300.2:c.582C>G NP_001339229.1:p.Pro194=
NR_147957.2:n.543C>G
NM_001352301.2:c.495C>G NP_001339230.1:p.Pro165=
NM_001352302.2:c.297C>G NP_001339231.1:p.Pro99=
NM_001352303.2:c.489C>G NP_001339232.1:p.Pro163=