Canonical Allele Identifier: CA10103970

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 1316459
• ClinVar RCV Id: RCV001774831 ; RCV002414333 ; RCV001868686
• dbSNP Id: rs571571452
• ExAC: 22:19883059 G / A
• gnomAD v2: 22-19883059-G-A
• gnomAD v3: 22-19895536-G-A
• gnomAD v4: 22-19895536-G-A
• MyVariant Identifiers: chr22:g.19883059G>A (hg19) ; chr22:g.19895536G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19895536G>A , CM000684.2:g.19895536G>A	GRCh38
NC_000022.10:g.19883059G>A , CM000684.1:g.19883059G>A	GRCh37
NC_000022.9:g.18263059G>A	NCBI36
NG_011835.1:g.51301C>T , LRG_417:g.51301C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.820C>T MANE Select	ENSP00000383365.1:p.Arg274Trp
ENST00000334363.14:c.820C>T	ENSP00000334451.9:p.Arg274Trp
ENST00000400518.5:c.730C>T	ENSP00000383362.1:p.Arg244Trp
ENST00000400519.6:c.817C>T	ENSP00000383363.1:p.Arg273Trp
ENST00000400521.6:c.820C>T	ENSP00000383365.1:p.Arg274Trp
ENST00000400525.6:c.751C>T	ENSP00000383369.3:p.Arg251Trp
ENST00000474308.5:c.763C>T	ENSP00000485665.1:p.Arg255Trp
ENST00000475995.3:c.317C>T
ENST00000491939.6:c.724C>T	ENSP00000485543.1:p.Arg242Trp
ENST00000494454.5:n.894C>T
ENST00000542719.6:c.532C>T	ENSP00000485128.2:p.Arg178Trp
ENST00000634537.1:c.49C>T	ENSP00000489208.1:p.Arg17Trp
ENST00000635155.1:n.406C>T
NM_001282512.1:c.820C>T	NP_001269441.1:p.Arg274Trp
NM_006440.4:c.820C>T	NP_006431.2:p.Arg274Trp
NM_001282512.2:c.820C>T	NP_001269441.1:p.Arg274Trp
NM_001352300.1:c.817C>T	NP_001339229.1:p.Arg273Trp
NM_001352301.1:c.730C>T	NP_001339230.1:p.Arg244Trp
NM_001352302.1:c.532C>T	NP_001339231.1:p.Arg178Trp
NM_001352303.1:c.724C>T	NP_001339232.1:p.Arg242Trp
NR_147957.1:n.952C>T
NM_006440.5:c.820C>T MANE Select	NP_006431.2:p.Arg274Trp
NM_001282512.3:c.820C>T	NP_001269441.1:p.Arg274Trp
NM_001352300.2:c.817C>T	NP_001339229.1:p.Arg273Trp
NR_147957.2:n.778C>T
NM_001352301.2:c.730C>T	NP_001339230.1:p.Arg244Trp
NM_001352302.2:c.532C>T	NP_001339231.1:p.Arg178Trp
NM_001352303.2:c.724C>T	NP_001339232.1:p.Arg242Trp