Canonical Allele Identifier: CA10103962

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 846179
• ClinVar RCV Id: RCV001049419
• dbSNP Id: rs200981451
• ExAC: 22:19883032 G / A
• gnomAD v2: 22-19883032-G-A
• gnomAD v3: 22-19895509-G-A
• gnomAD v4: 22-19895509-G-A
• MyVariant Identifiers: chr22:g.19883032G>A (hg19) ; chr22:g.19895509G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19895509G>A , CM000684.2:g.19895509G>A	GRCh38
NC_000022.10:g.19883032G>A , CM000684.1:g.19883032G>A	GRCh37
NC_000022.9:g.18263032G>A	NCBI36
NG_011835.1:g.51328C>T , LRG_417:g.51328C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000400521.7:c.847C>T MANE Select	ENSP00000383365.1:p.Arg283Trp
ENST00000334363.14:c.847C>T	ENSP00000334451.9:p.Arg283Trp
ENST00000400518.5:c.757C>T	ENSP00000383362.1:p.Arg253Trp
ENST00000400519.6:c.844C>T	ENSP00000383363.1:p.Arg282Trp
ENST00000400521.6:c.847C>T	ENSP00000383365.1:p.Arg283Trp
ENST00000400525.6:c.778C>T	ENSP00000383369.3:p.Arg260Trp
ENST00000474308.5:c.790C>T	ENSP00000485665.1:p.Arg264Trp
ENST00000475995.3:c.344C>T
ENST00000491939.6:c.751C>T	ENSP00000485543.1:p.Arg251Trp
ENST00000494454.5:n.921C>T
ENST00000542719.6:c.559C>T	ENSP00000485128.2:p.Arg187Trp
ENST00000634537.1:c.76C>T	ENSP00000489208.1:p.Arg26Trp
ENST00000635155.1:n.433C>T
NM_001282512.1:c.847C>T	NP_001269441.1:p.Arg283Trp
NM_006440.4:c.847C>T	NP_006431.2:p.Arg283Trp
NM_001282512.2:c.847C>T	NP_001269441.1:p.Arg283Trp
NM_001352300.1:c.844C>T	NP_001339229.1:p.Arg282Trp
NM_001352301.1:c.757C>T	NP_001339230.1:p.Arg253Trp
NM_001352302.1:c.559C>T	NP_001339231.1:p.Arg187Trp
NM_001352303.1:c.751C>T	NP_001339232.1:p.Arg251Trp
NR_147957.1:n.979C>T
NM_006440.5:c.847C>T MANE Select	NP_006431.2:p.Arg283Trp
NM_001282512.3:c.847C>T	NP_001269441.1:p.Arg283Trp
NM_001352300.2:c.844C>T	NP_001339229.1:p.Arg282Trp
NR_147957.2:n.805C>T
NM_001352301.2:c.757C>T	NP_001339230.1:p.Arg253Trp
NM_001352302.2:c.559C>T	NP_001339231.1:p.Arg187Trp
NM_001352303.2:c.751C>T	NP_001339232.1:p.Arg251Trp