Canonical Allele Identifier: CA10104268

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 2717283
• ClinVar RCV Id: RCV003510911
• dbSNP Id: rs767878935
• ExAC: 22:19906458 G / A
• gnomAD v2: 22-19906458-G-A
• gnomAD v3: 22-19918935-G-A
• gnomAD v4: 22-19918935-G-A
• MyVariant Identifiers: chr22:g.19906458G>A (hg19) ; chr22:g.19918935G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.299C>T MANE Select	ENSP00000383365.1:p.Ala100Val
ENST00000334363.14:c.299C>T	ENSP00000334451.9:p.Ala100Val
ENST00000400518.5:c.209C>T	ENSP00000383362.1:p.Ala70Val
ENST00000400519.6:c.296C>T	ENSP00000383363.1:p.Ala99Val
ENST00000400521.6:c.299C>T	ENSP00000383365.1:p.Ala100Val
ENST00000400525.6:c.230C>T	ENSP00000383369.3:p.Ala77Val
ENST00000474308.5:c.242C>T	ENSP00000485665.1:p.Ala81Val
ENST00000491939.6:c.203C>T	ENSP00000485543.1:p.Ala68Val
ENST00000496729.2:n.304C>T
ENST00000542719.6:c.11C>T	ENSP00000485128.2:p.Ala4Val
NM_001282512.1:c.299C>T	NP_001269441.1:p.Ala100Val
NM_006440.4:c.299C>T	NP_006431.2:p.Ala100Val
NM_001282512.2:c.299C>T	NP_001269441.1:p.Ala100Val
NM_001352300.1:c.296C>T	NP_001339229.1:p.Ala99Val
NM_001352301.1:c.209C>T	NP_001339230.1:p.Ala70Val
NM_001352302.1:c.11C>T	NP_001339231.1:p.Ala4Val
NM_001352303.1:c.203C>T	NP_001339232.1:p.Ala68Val
NR_147957.1:n.431C>T
NM_006440.5:c.299C>T MANE Select	NP_006431.2:p.Ala100Val
NM_001282512.3:c.299C>T	NP_001269441.1:p.Ala100Val
NM_001352300.2:c.296C>T	NP_001339229.1:p.Ala99Val
NR_147957.2:n.257C>T
NM_001352301.2:c.209C>T	NP_001339230.1:p.Ala70Val
NM_001352302.2:c.11C>T	NP_001339231.1:p.Ala4Val
NM_001352303.2:c.203C>T	NP_001339232.1:p.Ala68Val