Canonical Allele Identifier: CA10103963

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 518713
• ClinVar RCV Id: RCV002066926
• dbSNP Id: rs373979565
• ExAC: 22:19883033 C / T
• gnomAD v2: 22-19883033-C-T
• gnomAD v3: 22-19895510-C-T
• gnomAD v4: 22-19895510-C-T
• MyVariant Identifiers: chr22:g.19883033C>T (hg19) ; chr22:g.19895510C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19895510C>T , CM000684.2:g.19895510C>T	GRCh38
NC_000022.10:g.19883033C>T , CM000684.1:g.19883033C>T	GRCh37
NC_000022.9:g.18263033C>T	NCBI36
NG_011835.1:g.51327G>A , LRG_417:g.51327G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000400521.7:c.846G>A MANE Select	ENSP00000383365.1:p.Ser282=
ENST00000334363.14:c.846G>A	ENSP00000334451.9:p.Ser282=
ENST00000400518.5:c.756G>A	ENSP00000383362.1:p.Ser252=
ENST00000400519.6:c.843G>A	ENSP00000383363.1:p.Ser281=
ENST00000400521.6:c.846G>A	ENSP00000383365.1:p.Ser282=
ENST00000400525.6:c.777G>A	ENSP00000383369.3:p.Ser259=
ENST00000474308.5:c.789G>A	ENSP00000485665.1:p.Ser263=
ENST00000475995.3:c.343G>A
ENST00000491939.6:c.750G>A	ENSP00000485543.1:p.Ser250=
ENST00000494454.5:n.920G>A
ENST00000542719.6:c.558G>A	ENSP00000485128.2:p.Ser186=
ENST00000634537.1:c.75G>A	ENSP00000489208.1:p.Ser25=
ENST00000635155.1:n.432G>A
NM_001282512.1:c.846G>A	NP_001269441.1:p.Ser282=
NM_006440.4:c.846G>A	NP_006431.2:p.Ser282=
NM_001282512.2:c.846G>A	NP_001269441.1:p.Ser282=
NM_001352300.1:c.843G>A	NP_001339229.1:p.Ser281=
NM_001352301.1:c.756G>A	NP_001339230.1:p.Ser252=
NM_001352302.1:c.558G>A	NP_001339231.1:p.Ser186=
NM_001352303.1:c.750G>A	NP_001339232.1:p.Ser250=
NR_147957.1:n.978G>A
NM_006440.5:c.846G>A MANE Select	NP_006431.2:p.Ser282=
NM_001282512.3:c.846G>A	NP_001269441.1:p.Ser282=
NM_001352300.2:c.843G>A	NP_001339229.1:p.Ser281=
NR_147957.2:n.804G>A
NM_001352301.2:c.756G>A	NP_001339230.1:p.Ser252=
NM_001352302.2:c.558G>A	NP_001339231.1:p.Ser186=
NM_001352303.2:c.750G>A	NP_001339232.1:p.Ser250=