Canonical Allele Identifier: CA351852

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 222883
• ClinVar RCV Id: RCV000208206 ; RCV003298275 ; RCV003619662
• dbSNP Id: rs869025560
• gnomAD v2: 22-19906420-A-G
• gnomAD v4: 22-19918897-A-G
• MyVariant Identifiers: chr22:g.19906420A>G (hg19) ; chr22:g.19918897A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19918897A>G , CM000684.2:g.19918897A>G	GRCh38
NC_000022.10:g.19906420A>G , CM000684.1:g.19906420A>G	GRCh37
NC_000022.9:g.18286420A>G	NCBI36
NG_011835.1:g.27940T>C , LRG_417:g.27940T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.337T>C MANE Select	ENSP00000383365.1:p.Tyr113His
ENST00000334363.14:c.337T>C	ENSP00000334451.9:p.Tyr113His
ENST00000400518.5:c.247T>C	ENSP00000383362.1:p.Tyr83His
ENST00000400519.6:c.334T>C	ENSP00000383363.1:p.Tyr112His
ENST00000400521.6:c.337T>C	ENSP00000383365.1:p.Tyr113His
ENST00000400525.6:c.268T>C	ENSP00000383369.3:p.Tyr90His
ENST00000474308.5:c.280T>C	ENSP00000485665.1:p.Tyr94His
ENST00000491939.6:c.241T>C	ENSP00000485543.1:p.Tyr81His
ENST00000496729.2:n.342T>C
ENST00000542719.6:c.49T>C	ENSP00000485128.2:p.Tyr17His
NM_001282512.1:c.337T>C	NP_001269441.1:p.Tyr113His
NM_006440.4:c.337T>C	NP_006431.2:p.Tyr113His
NM_001282512.2:c.337T>C	NP_001269441.1:p.Tyr113His
NM_001352300.1:c.334T>C	NP_001339229.1:p.Tyr112His
NM_001352301.1:c.247T>C	NP_001339230.1:p.Tyr83His
NM_001352302.1:c.49T>C	NP_001339231.1:p.Tyr17His
NM_001352303.1:c.241T>C	NP_001339232.1:p.Tyr81His
NR_147957.1:n.469T>C
NM_006440.5:c.337T>C MANE Select	NP_006431.2:p.Tyr113His
NM_001282512.3:c.337T>C	NP_001269441.1:p.Tyr113His
NM_001352300.2:c.334T>C	NP_001339229.1:p.Tyr112His
NR_147957.2:n.295T>C
NM_001352301.2:c.247T>C	NP_001339230.1:p.Tyr83His
NM_001352302.2:c.49T>C	NP_001339231.1:p.Tyr17His
NM_001352303.2:c.241T>C	NP_001339232.1:p.Tyr81His