Canonical Allele Identifier: CA410693871

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 1011316
• ClinVar RCV Id: RCV001309087 ; RCV003166765
• dbSNP Id: rs767878935
• gnomAD v2: 22-19906458-G-T
• gnomAD v3: 22-19918935-G-T
• gnomAD v4: 22-19918935-G-T
• MyVariant Identifiers: chr22:g.19906458G>T (hg19) ; chr22:g.19918935G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19918935G>T , CM000684.2:g.19918935G>T	GRCh38
NC_000022.10:g.19906458G>T , CM000684.1:g.19906458G>T	GRCh37
NC_000022.9:g.18286458G>T	NCBI36
NG_011835.1:g.27902C>A , LRG_417:g.27902C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.299C>A MANE Select	ENSP00000383365.1:p.Ala100Glu
ENST00000334363.14:c.299C>A	ENSP00000334451.9:p.Ala100Glu
ENST00000400518.5:c.209C>A	ENSP00000383362.1:p.Ala70Glu
ENST00000400519.6:c.296C>A	ENSP00000383363.1:p.Ala99Glu
ENST00000400521.6:c.299C>A	ENSP00000383365.1:p.Ala100Glu
ENST00000400525.6:c.230C>A	ENSP00000383369.3:p.Ala77Glu
ENST00000474308.5:c.242C>A	ENSP00000485665.1:p.Ala81Glu
ENST00000491939.6:c.203C>A	ENSP00000485543.1:p.Ala68Glu
ENST00000496729.2:n.304C>A
ENST00000542719.6:c.11C>A	ENSP00000485128.2:p.Ala4Glu
NM_001282512.1:c.299C>A	NP_001269441.1:p.Ala100Glu
NM_006440.4:c.299C>A	NP_006431.2:p.Ala100Glu
NM_001282512.2:c.299C>A	NP_001269441.1:p.Ala100Glu
NM_001352300.1:c.296C>A	NP_001339229.1:p.Ala99Glu
NM_001352301.1:c.209C>A	NP_001339230.1:p.Ala70Glu
NM_001352302.1:c.11C>A	NP_001339231.1:p.Ala4Glu
NM_001352303.1:c.203C>A	NP_001339232.1:p.Ala68Glu
NR_147957.1:n.431C>A
NM_006440.5:c.299C>A MANE Select	NP_006431.2:p.Ala100Glu
NM_001282512.3:c.299C>A	NP_001269441.1:p.Ala100Glu
NM_001352300.2:c.296C>A	NP_001339229.1:p.Ala99Glu
NR_147957.2:n.257C>A
NM_001352301.2:c.209C>A	NP_001339230.1:p.Ala70Glu
NM_001352302.2:c.11C>A	NP_001339231.1:p.Ala4Glu
NM_001352303.2:c.203C>A	NP_001339232.1:p.Ala68Glu