Canonical Allele Identifier: CA346778

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 180584
• ClinVar RCV Id: RCV000157580 ; RCV001857556
• dbSNP Id: rs730880248
• ExAC: 22:19902756 C / T
• gnomAD v2: 22-19902756-C-T
• gnomAD v3: 22-19915233-C-T
• gnomAD v4: 22-19915233-C-T
• MyVariant Identifiers: chr22:g.19902756C>T (hg19) ; chr22:g.19915233C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19915233C>T , CM000684.2:g.19915233C>T	GRCh38
NC_000022.10:g.19902756C>T , CM000684.1:g.19902756C>T	GRCh37
NC_000022.9:g.18282756C>T	NCBI36
NG_011835.1:g.31604G>A , LRG_417:g.31604G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.572G>A MANE Select	ENSP00000383365.1:p.Arg191Gln
ENST00000334363.14:c.572G>A	ENSP00000334451.9:p.Arg191Gln
ENST00000400518.5:c.482G>A	ENSP00000383362.1:p.Arg161Gln
ENST00000400519.6:c.569G>A	ENSP00000383363.1:p.Arg190Gln
ENST00000400521.6:c.572G>A	ENSP00000383365.1:p.Arg191Gln
ENST00000400525.6:c.503G>A	ENSP00000383369.3:p.Arg168Gln
ENST00000471835.1:n.117G>A
ENST00000474308.5:c.515G>A	ENSP00000485665.1:p.Arg172Gln
ENST00000475995.3:c.69G>A
ENST00000484672.5:n.202G>A
ENST00000491939.6:c.476G>A	ENSP00000485543.1:p.Arg159Gln
ENST00000494454.5:n.646G>A
ENST00000496729.2:n.577G>A
ENST00000542719.6:c.284G>A	ENSP00000485128.2:p.Arg95Gln
ENST00000635155.1:n.158G>A
NM_001282512.1:c.572G>A	NP_001269441.1:p.Arg191Gln
NM_006440.4:c.572G>A	NP_006431.2:p.Arg191Gln
NM_001282512.2:c.572G>A	NP_001269441.1:p.Arg191Gln
NM_001352300.1:c.569G>A	NP_001339229.1:p.Arg190Gln
NM_001352301.1:c.482G>A	NP_001339230.1:p.Arg161Gln
NM_001352302.1:c.284G>A	NP_001339231.1:p.Arg95Gln
NM_001352303.1:c.476G>A	NP_001339232.1:p.Arg159Gln
NR_147957.1:n.704G>A
NM_006440.5:c.572G>A MANE Select	NP_006431.2:p.Arg191Gln
NM_001282512.3:c.572G>A	NP_001269441.1:p.Arg191Gln
NM_001352300.2:c.569G>A	NP_001339229.1:p.Arg190Gln
NR_147957.2:n.530G>A
NM_001352301.2:c.482G>A	NP_001339230.1:p.Arg161Gln
NM_001352302.2:c.284G>A	NP_001339231.1:p.Arg95Gln
NM_001352303.2:c.476G>A	NP_001339232.1:p.Arg159Gln