Canonical Allele Identifier: CA088596

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 222884
• ClinVar RCV Id: RCV000208427
• dbSNP Id: rs779054925
• ExAC: 22:19882983 C / T
• gnomAD v2: 22-19882983-C-T
• gnomAD v3: 22-19895460-C-T
• gnomAD v4: 22-19895460-C-T
• MyVariant Identifiers: chr22:g.19882983C>T (hg19) ; chr22:g.19895460C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19895460C>T , CM000684.2:g.19895460C>T	GRCh38
NC_000022.10:g.19882983C>T , CM000684.1:g.19882983C>T	GRCh37
NC_000022.9:g.18262983C>T	NCBI36
NG_011835.1:g.51377G>A , LRG_417:g.51377G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.896G>A MANE Select	ENSP00000383365.1:p.Ser299Asn
ENST00000334363.14:c.896G>A	ENSP00000334451.9:p.Ser299Asn
ENST00000400518.5:c.806G>A	ENSP00000383362.1:p.Ser269Asn
ENST00000400519.6:c.893G>A	ENSP00000383363.1:p.Ser298Asn
ENST00000400521.6:c.896G>A	ENSP00000383365.1:p.Ser299Asn
ENST00000400525.6:c.827G>A	ENSP00000383369.3:p.Ser276Asn
ENST00000474308.5:c.839G>A	ENSP00000485665.1:p.Ser280Asn
ENST00000475995.3:c.393G>A
ENST00000491939.6:c.800G>A	ENSP00000485543.1:p.Ser267Asn
ENST00000494454.5:n.970G>A
ENST00000542719.6:c.608G>A	ENSP00000485128.2:p.Ser203Asn
ENST00000634537.1:c.125G>A	ENSP00000489208.1:p.Ser42Asn
ENST00000635155.1:n.482G>A
NM_001282512.1:c.896G>A	NP_001269441.1:p.Ser299Asn
NM_006440.4:c.896G>A	NP_006431.2:p.Ser299Asn
NM_001282512.2:c.896G>A	NP_001269441.1:p.Ser299Asn
NM_001352300.1:c.893G>A	NP_001339229.1:p.Ser298Asn
NM_001352301.1:c.806G>A	NP_001339230.1:p.Ser269Asn
NM_001352302.1:c.608G>A	NP_001339231.1:p.Ser203Asn
NM_001352303.1:c.800G>A	NP_001339232.1:p.Ser267Asn
NR_147957.1:n.1028G>A
NM_006440.5:c.896G>A MANE Select	NP_006431.2:p.Ser299Asn
NM_001282512.3:c.896G>A	NP_001269441.1:p.Ser299Asn
NM_001352300.2:c.893G>A	NP_001339229.1:p.Ser298Asn
NR_147957.2:n.854G>A
NM_001352301.2:c.806G>A	NP_001339230.1:p.Ser269Asn
NM_001352302.2:c.608G>A	NP_001339231.1:p.Ser203Asn
NM_001352303.2:c.800G>A	NP_001339232.1:p.Ser267Asn