Canonical Allele Identifier: CA410686683

Gene: TXNRD2

Linked Data

• MyVariant Identifiers: chr22:g.19883052A>T (hg19) ; chr22:g.19895529A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19895529A>T , CM000684.2:g.19895529A>T	GRCh38
NC_000022.10:g.19883052A>T , CM000684.1:g.19883052A>T	GRCh37
NC_000022.9:g.18263052A>T	NCBI36
NG_011835.1:g.51308T>A , LRG_417:g.51308T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.827T>A MANE Select	ENSP00000383365.1:p.Leu276Gln
ENST00000334363.14:c.827T>A	ENSP00000334451.9:p.Leu276Gln
ENST00000400518.5:c.737T>A	ENSP00000383362.1:p.Leu246Gln
ENST00000400519.6:c.824T>A	ENSP00000383363.1:p.Leu275Gln
ENST00000400521.6:c.827T>A	ENSP00000383365.1:p.Leu276Gln
ENST00000400525.6:c.758T>A	ENSP00000383369.3:p.Leu253Gln
ENST00000474308.5:c.770T>A	ENSP00000485665.1:p.Leu257Gln
ENST00000475995.3:c.324T>A
ENST00000491939.6:c.731T>A	ENSP00000485543.1:p.Leu244Gln
ENST00000494454.5:n.901T>A
ENST00000542719.6:c.539T>A	ENSP00000485128.2:p.Leu180Gln
ENST00000634537.1:c.56T>A	ENSP00000489208.1:p.Leu19Gln
ENST00000635155.1:n.413T>A
NM_001282512.1:c.827T>A	NP_001269441.1:p.Leu276Gln
NM_006440.4:c.827T>A	NP_006431.2:p.Leu276Gln
NM_001282512.2:c.827T>A	NP_001269441.1:p.Leu276Gln
NM_001352300.1:c.824T>A	NP_001339229.1:p.Leu275Gln
NM_001352301.1:c.737T>A	NP_001339230.1:p.Leu246Gln
NM_001352302.1:c.539T>A	NP_001339231.1:p.Leu180Gln
NM_001352303.1:c.731T>A	NP_001339232.1:p.Leu244Gln
NR_147957.1:n.959T>A
NM_006440.5:c.827T>A MANE Select	NP_006431.2:p.Leu276Gln
NM_001282512.3:c.827T>A	NP_001269441.1:p.Leu276Gln
NM_001352300.2:c.824T>A	NP_001339229.1:p.Leu275Gln
NR_147957.2:n.785T>A
NM_001352301.2:c.737T>A	NP_001339230.1:p.Leu246Gln
NM_001352302.2:c.539T>A	NP_001339231.1:p.Leu180Gln
NM_001352303.2:c.731T>A	NP_001339232.1:p.Leu244Gln