Canonical Allele Identifier: CA410693705

Gene: TXNRD2

Linked Data

• dbSNP Id: rs1298600275
• gnomAD v2: 22-19906411-C-T
• MyVariant Identifiers: chr22:g.19906411C>T (hg19) ; chr22:g.19918888C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19918888C>T , CM000684.2:g.19918888C>T	GRCh38
NC_000022.10:g.19906411C>T , CM000684.1:g.19906411C>T	GRCh37
NC_000022.9:g.18286411C>T	NCBI36
NG_011835.1:g.27949G>A , LRG_417:g.27949G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.346G>A MANE Select	ENSP00000383365.1:p.Glu116Lys
ENST00000334363.14:c.346G>A	ENSP00000334451.9:p.Glu116Lys
ENST00000400518.5:c.256G>A	ENSP00000383362.1:p.Glu86Lys
ENST00000400519.6:c.343G>A	ENSP00000383363.1:p.Glu115Lys
ENST00000400521.6:c.346G>A	ENSP00000383365.1:p.Glu116Lys
ENST00000400525.6:c.277G>A	ENSP00000383369.3:p.Glu93Lys
ENST00000474308.5:c.289G>A	ENSP00000485665.1:p.Glu97Lys
ENST00000491939.6:c.250G>A	ENSP00000485543.1:p.Glu84Lys
ENST00000496729.2:n.351G>A
ENST00000542719.6:c.58G>A	ENSP00000485128.2:p.Glu20Lys
NM_001282512.1:c.346G>A	NP_001269441.1:p.Glu116Lys
NM_006440.4:c.346G>A	NP_006431.2:p.Glu116Lys
NM_001282512.2:c.346G>A	NP_001269441.1:p.Glu116Lys
NM_001352300.1:c.343G>A	NP_001339229.1:p.Glu115Lys
NM_001352301.1:c.256G>A	NP_001339230.1:p.Glu86Lys
NM_001352302.1:c.58G>A	NP_001339231.1:p.Glu20Lys
NM_001352303.1:c.250G>A	NP_001339232.1:p.Glu84Lys
NR_147957.1:n.478G>A
NM_006440.5:c.346G>A MANE Select	NP_006431.2:p.Glu116Lys
NM_001282512.3:c.346G>A	NP_001269441.1:p.Glu116Lys
NM_001352300.2:c.343G>A	NP_001339229.1:p.Glu115Lys
NR_147957.2:n.304G>A
NM_001352301.2:c.256G>A	NP_001339230.1:p.Glu86Lys
NM_001352302.2:c.58G>A	NP_001339231.1:p.Glu20Lys
NM_001352303.2:c.250G>A	NP_001339232.1:p.Glu84Lys