Canonical Allele Identifier: CA322099012

Gene: TXNRD2

Linked Data

• dbSNP Id: rs200981451
• gnomAD v4: 22-19895509-G-C
• MyVariant Identifiers: chr22:g.19883032G>C (hg19) ; chr22:g.19895509G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19895509G>C , CM000684.2:g.19895509G>C	GRCh38
NC_000022.10:g.19883032G>C , CM000684.1:g.19883032G>C	GRCh37
NC_000022.9:g.18263032G>C	NCBI36
NG_011835.1:g.51328C>G , LRG_417:g.51328C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000400521.7:c.847C>G MANE Select	ENSP00000383365.1:p.Arg283Gly
ENST00000334363.14:c.847C>G	ENSP00000334451.9:p.Arg283Gly
ENST00000400518.5:c.757C>G	ENSP00000383362.1:p.Arg253Gly
ENST00000400519.6:c.844C>G	ENSP00000383363.1:p.Arg282Gly
ENST00000400521.6:c.847C>G	ENSP00000383365.1:p.Arg283Gly
ENST00000400525.6:c.778C>G	ENSP00000383369.3:p.Arg260Gly
ENST00000474308.5:c.790C>G	ENSP00000485665.1:p.Arg264Gly
ENST00000475995.3:c.344C>G
ENST00000491939.6:c.751C>G	ENSP00000485543.1:p.Arg251Gly
ENST00000494454.5:n.921C>G
ENST00000542719.6:c.559C>G	ENSP00000485128.2:p.Arg187Gly
ENST00000634537.1:c.76C>G	ENSP00000489208.1:p.Arg26Gly
ENST00000635155.1:n.433C>G
NM_001282512.1:c.847C>G	NP_001269441.1:p.Arg283Gly
NM_006440.4:c.847C>G	NP_006431.2:p.Arg283Gly
NM_001282512.2:c.847C>G	NP_001269441.1:p.Arg283Gly
NM_001352300.1:c.844C>G	NP_001339229.1:p.Arg282Gly
NM_001352301.1:c.757C>G	NP_001339230.1:p.Arg253Gly
NM_001352302.1:c.559C>G	NP_001339231.1:p.Arg187Gly
NM_001352303.1:c.751C>G	NP_001339232.1:p.Arg251Gly
NR_147957.1:n.979C>G
NM_006440.5:c.847C>G MANE Select	NP_006431.2:p.Arg283Gly
NM_001282512.3:c.847C>G	NP_001269441.1:p.Arg283Gly
NM_001352300.2:c.844C>G	NP_001339229.1:p.Arg282Gly
NR_147957.2:n.805C>G
NM_001352301.2:c.757C>G	NP_001339230.1:p.Arg253Gly
NM_001352302.2:c.559C>G	NP_001339231.1:p.Arg187Gly
NM_001352303.2:c.751C>G	NP_001339232.1:p.Arg251Gly