Canonical Allele Identifier: CA10103953

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 518783
• ClinVar RCV Id: RCV000618377 ; RCV001053449
• dbSNP Id: rs543290126
• ExAC: 22:19883010 C / A
• gnomAD v2: 22-19883010-C-A
• gnomAD v3: 22-19895487-C-A
• gnomAD v4: 22-19895487-C-A
• MyVariant Identifiers: chr22:g.19883010C>A (hg19) ; chr22:g.19895487C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19895487C>A , CM000684.2:g.19895487C>A	GRCh38
NC_000022.10:g.19883010C>A , CM000684.1:g.19883010C>A	GRCh37
NC_000022.9:g.18263010C>A	NCBI36
NG_011835.1:g.51350G>T , LRG_417:g.51350G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.869G>T MANE Select	ENSP00000383365.1:p.Gly290Val
ENST00000334363.14:c.869G>T	ENSP00000334451.9:p.Gly290Val
ENST00000400518.5:c.779G>T	ENSP00000383362.1:p.Gly260Val
ENST00000400519.6:c.866G>T	ENSP00000383363.1:p.Gly289Val
ENST00000400521.6:c.869G>T	ENSP00000383365.1:p.Gly290Val
ENST00000400525.6:c.800G>T	ENSP00000383369.3:p.Gly267Val
ENST00000474308.5:c.812G>T	ENSP00000485665.1:p.Gly271Val
ENST00000475995.3:c.366G>T
ENST00000491939.6:c.773G>T	ENSP00000485543.1:p.Gly258Val
ENST00000494454.5:n.943G>T
ENST00000542719.6:c.581G>T	ENSP00000485128.2:p.Gly194Val
ENST00000634537.1:c.98G>T	ENSP00000489208.1:p.Gly33Val
ENST00000635155.1:n.455G>T
NM_001282512.1:c.869G>T	NP_001269441.1:p.Gly290Val
NM_006440.4:c.869G>T	NP_006431.2:p.Gly290Val
NM_001282512.2:c.869G>T	NP_001269441.1:p.Gly290Val
NM_001352300.1:c.866G>T	NP_001339229.1:p.Gly289Val
NM_001352301.1:c.779G>T	NP_001339230.1:p.Gly260Val
NM_001352302.1:c.581G>T	NP_001339231.1:p.Gly194Val
NM_001352303.1:c.773G>T	NP_001339232.1:p.Gly258Val
NR_147957.1:n.1001G>T
NM_006440.5:c.869G>T MANE Select	NP_006431.2:p.Gly290Val
NM_001282512.3:c.869G>T	NP_001269441.1:p.Gly290Val
NM_001352300.2:c.866G>T	NP_001339229.1:p.Gly289Val
NR_147957.2:n.827G>T
NM_001352301.2:c.779G>T	NP_001339230.1:p.Gly260Val
NM_001352302.2:c.581G>T	NP_001339231.1:p.Gly194Val
NM_001352303.2:c.773G>T	NP_001339232.1:p.Gly258Val