Canonical Allele Identifier: CA410686642

Gene: TXNRD2

Linked Data

• dbSNP Id: rs201177571
• gnomAD v2: 22-19883029-C-T
• gnomAD v4: 22-19895506-C-T
• MyVariant Identifiers: chr22:g.19883029C>T (hg19) ; chr22:g.19895506C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19895506C>T , CM000684.2:g.19895506C>T	GRCh38
NC_000022.10:g.19883029C>T , CM000684.1:g.19883029C>T	GRCh37
NC_000022.9:g.18263029C>T	NCBI36
NG_011835.1:g.51331G>A , LRG_417:g.51331G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000400521.7:c.850G>A MANE Select	ENSP00000383365.1:p.Val284Ile
ENST00000334363.14:c.850G>A	ENSP00000334451.9:p.Val284Ile
ENST00000400518.5:c.760G>A	ENSP00000383362.1:p.Val254Ile
ENST00000400519.6:c.847G>A	ENSP00000383363.1:p.Val283Ile
ENST00000400521.6:c.850G>A	ENSP00000383365.1:p.Val284Ile
ENST00000400525.6:c.781G>A	ENSP00000383369.3:p.Val261Ile
ENST00000474308.5:c.793G>A	ENSP00000485665.1:p.Val265Ile
ENST00000475995.3:c.347G>A
ENST00000491939.6:c.754G>A	ENSP00000485543.1:p.Val252Ile
ENST00000494454.5:n.924G>A
ENST00000542719.6:c.562G>A	ENSP00000485128.2:p.Val188Ile
ENST00000634537.1:c.79G>A	ENSP00000489208.1:p.Val27Ile
ENST00000635155.1:n.436G>A
NM_001282512.1:c.850G>A	NP_001269441.1:p.Val284Ile
NM_006440.4:c.850G>A	NP_006431.2:p.Val284Ile
NM_001282512.2:c.850G>A	NP_001269441.1:p.Val284Ile
NM_001352300.1:c.847G>A	NP_001339229.1:p.Val283Ile
NM_001352301.1:c.760G>A	NP_001339230.1:p.Val254Ile
NM_001352302.1:c.562G>A	NP_001339231.1:p.Val188Ile
NM_001352303.1:c.754G>A	NP_001339232.1:p.Val252Ile
NR_147957.1:n.982G>A
NM_006440.5:c.850G>A MANE Select	NP_006431.2:p.Val284Ile
NM_001282512.3:c.850G>A	NP_001269441.1:p.Val284Ile
NM_001352300.2:c.847G>A	NP_001339229.1:p.Val283Ile
NR_147957.2:n.808G>A
NM_001352301.2:c.760G>A	NP_001339230.1:p.Val254Ile
NM_001352302.2:c.562G>A	NP_001339231.1:p.Val188Ile
NM_001352303.2:c.754G>A	NP_001339232.1:p.Val252Ile