Canonical Allele Identifier: CA10104274

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 432228
• ClinVar RCV Id: RCV000498114 ; RCV000793287 ; RCV002438207
• dbSNP Id: rs201658653
• ExAC: 22:19906498 C / T
• gnomAD v2: 22-19906498-C-T
• gnomAD v3: 22-19918975-C-T
• gnomAD v4: 22-19918975-C-T
• MyVariant Identifiers: chr22:g.19906498C>T (hg19) ; chr22:g.19918975C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19918975C>T , CM000684.2:g.19918975C>T	GRCh38
NC_000022.10:g.19906498C>T , CM000684.1:g.19906498C>T	GRCh37
NC_000022.9:g.18286498C>T	NCBI36
NG_011835.1:g.27862G>A , LRG_417:g.27862G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.259G>A MANE Select	ENSP00000383365.1:p.Val87Ile
ENST00000334363.14:c.259G>A	ENSP00000334451.9:p.Val87Ile
ENST00000400518.5:c.169G>A	ENSP00000383362.1:p.Val57Ile
ENST00000400519.6:c.256G>A	ENSP00000383363.1:p.Val86Ile
ENST00000400521.6:c.259G>A	ENSP00000383365.1:p.Val87Ile
ENST00000400525.6:c.190G>A	ENSP00000383369.3:p.Val64Ile
ENST00000474308.5:c.202G>A	ENSP00000485665.1:p.Val68Ile
ENST00000491939.6:c.163G>A	ENSP00000485543.1:p.Val55Ile
ENST00000496729.2:n.264G>A
ENST00000542719.6:c.-30G>A	ENSP00000485128.2:n.-30G>A
NM_001282512.1:c.259G>A	NP_001269441.1:p.Val87Ile
NM_006440.4:c.259G>A	NP_006431.2:p.Val87Ile
NM_001282512.2:c.259G>A	NP_001269441.1:p.Val87Ile
NM_001352300.1:c.256G>A	NP_001339229.1:p.Val86Ile
NM_001352301.1:c.169G>A	NP_001339230.1:p.Val57Ile
NM_001352302.1:c.-30G>A	NP_001339231.1:n.-30G>A
NM_001352303.1:c.163G>A	NP_001339232.1:p.Val55Ile
NR_147957.1:n.391G>A
NM_006440.5:c.259G>A MANE Select	NP_006431.2:p.Val87Ile
NM_001282512.3:c.259G>A	NP_001269441.1:p.Val87Ile
NM_001352300.2:c.256G>A	NP_001339229.1:p.Val86Ile
NR_147957.2:n.217G>A
NM_001352301.2:c.169G>A	NP_001339230.1:p.Val57Ile
NM_001352302.2:c.-30G>A	NP_001339231.1:n.-30G>A
NM_001352303.2:c.163G>A	NP_001339232.1:p.Val55Ile