Canonical Allele Identifier: CA10104002

Gene: TXNRD2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19898068G>A , CM000684.2:g.19898068G>A	GRCh38
NC_000022.10:g.19885591G>A , CM000684.1:g.19885591G>A	GRCh37
NC_000022.9:g.18265591G>A	NCBI36
NG_011835.1:g.48769C>T , LRG_417:g.48769C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006440.5:c.745C>T MANE Select	NP_006431.2:p.Arg249Cys
ENST00000400521.7:c.745C>T MANE Select	ENSP00000383365.1:p.Arg249Cys
NM_001282512.1:c.745C>T	NP_001269441.1:p.Arg249Cys
NM_001282512.2:c.745C>T	NP_001269441.1:p.Arg249Cys
NM_001282512.3:c.745C>T	NP_001269441.1:p.Arg249Cys
NM_001352300.1:c.742C>T	NP_001339229.1:p.Arg248Cys
NM_001352300.2:c.742C>T	NP_001339229.1:p.Arg248Cys
NM_001352301.1:c.655C>T	NP_001339230.1:p.Arg219Cys
NM_001352301.2:c.655C>T	NP_001339230.1:p.Arg219Cys
NM_001352302.1:c.457C>T	NP_001339231.1:p.Arg153Cys
NM_001352302.2:c.457C>T	NP_001339231.1:p.Arg153Cys
NM_001352303.1:c.649C>T	NP_001339232.1:p.Arg217Cys
NM_001352303.2:c.649C>T	NP_001339232.1:p.Arg217Cys
NM_006440.4:c.745C>T	NP_006431.2:p.Arg249Cys
NR_147957.1:n.877C>T
NR_147957.2:n.703C>T
ENST00000334363.14:c.745C>T	ENSP00000334451.9:p.Arg249Cys
ENST00000400518.5:c.655C>T	ENSP00000383362.1:p.Arg219Cys
ENST00000400519.6:c.742C>T	ENSP00000383363.1:p.Arg248Cys
ENST00000400521.6:c.745C>T	ENSP00000383365.1:p.Arg249Cys
ENST00000400525.6:c.676C>T	ENSP00000383369.3:p.Arg226Cys
ENST00000474308.5:c.688C>T	ENSP00000485665.1:p.Arg230Cys
ENST00000475995.3:c.242C>T
ENST00000491939.6:c.649C>T	ENSP00000485543.1:p.Arg217Cys
ENST00000494454.5:n.819C>T
ENST00000542719.6:c.457C>T	ENSP00000485128.2:p.Arg153Cys
ENST00000635155.1:n.331C>T