Canonical Allele Identifier: CA10103961

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 2175544
• ClinVar RCV Id: RCV002602364
• dbSNP Id: rs531699366
• ExAC: 22:19883031 C / T
• gnomAD v2: 22-19883031-C-T
• gnomAD v3: 22-19895508-C-T
• gnomAD v4: 22-19895508-C-T
• MyVariant Identifiers: chr22:g.19883031C>T (hg19) ; chr22:g.19895508C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19895508C>T , CM000684.2:g.19895508C>T	GRCh38
NC_000022.10:g.19883031C>T , CM000684.1:g.19883031C>T	GRCh37
NC_000022.9:g.18263031C>T	NCBI36
NG_011835.1:g.51329G>A , LRG_417:g.51329G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000400521.7:c.848G>A MANE Select	ENSP00000383365.1:p.Arg283Gln
ENST00000334363.14:c.848G>A	ENSP00000334451.9:p.Arg283Gln
ENST00000400518.5:c.758G>A	ENSP00000383362.1:p.Arg253Gln
ENST00000400519.6:c.845G>A	ENSP00000383363.1:p.Arg282Gln
ENST00000400521.6:c.848G>A	ENSP00000383365.1:p.Arg283Gln
ENST00000400525.6:c.779G>A	ENSP00000383369.3:p.Arg260Gln
ENST00000474308.5:c.791G>A	ENSP00000485665.1:p.Arg264Gln
ENST00000475995.3:c.345G>A
ENST00000491939.6:c.752G>A	ENSP00000485543.1:p.Arg251Gln
ENST00000494454.5:n.922G>A
ENST00000542719.6:c.560G>A	ENSP00000485128.2:p.Arg187Gln
ENST00000634537.1:c.77G>A	ENSP00000489208.1:p.Arg26Gln
ENST00000635155.1:n.434G>A
NM_001282512.1:c.848G>A	NP_001269441.1:p.Arg283Gln
NM_006440.4:c.848G>A	NP_006431.2:p.Arg283Gln
NM_001282512.2:c.848G>A	NP_001269441.1:p.Arg283Gln
NM_001352300.1:c.845G>A	NP_001339229.1:p.Arg282Gln
NM_001352301.1:c.758G>A	NP_001339230.1:p.Arg253Gln
NM_001352302.1:c.560G>A	NP_001339231.1:p.Arg187Gln
NM_001352303.1:c.752G>A	NP_001339232.1:p.Arg251Gln
NR_147957.1:n.980G>A
NM_006440.5:c.848G>A MANE Select	NP_006431.2:p.Arg283Gln
NM_001282512.3:c.848G>A	NP_001269441.1:p.Arg283Gln
NM_001352300.2:c.845G>A	NP_001339229.1:p.Arg282Gln
NR_147957.2:n.806G>A
NM_001352301.2:c.758G>A	NP_001339230.1:p.Arg253Gln
NM_001352302.2:c.560G>A	NP_001339231.1:p.Arg187Gln
NM_001352303.2:c.752G>A	NP_001339232.1:p.Arg251Gln