Canonical Allele Identifier: CA410686423

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 1932675
• ClinVar RCV Id: RCV002622694 ; RCV003308198
• gnomAD v4: 22-19895439-G-C
• MyVariant Identifiers: chr22:g.19882962G>C (hg19) ; chr22:g.19895439G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19895439G>C , CM000684.2:g.19895439G>C	GRCh38
NC_000022.10:g.19882962G>C , CM000684.1:g.19882962G>C	GRCh37
NC_000022.9:g.18262962G>C	NCBI36
NG_011835.1:g.51398C>G , LRG_417:g.51398C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.917C>G MANE Select	ENSP00000383365.1:p.Thr306Arg
ENST00000334363.14:c.917C>G	ENSP00000334451.9:p.Thr306Arg
ENST00000400518.5:c.827C>G	ENSP00000383362.1:p.Thr276Arg
ENST00000400519.6:c.914C>G	ENSP00000383363.1:p.Thr305Arg
ENST00000400521.6:c.917C>G	ENSP00000383365.1:p.Thr306Arg
ENST00000400525.6:c.848C>G	ENSP00000383369.3:p.Thr283Arg
ENST00000474308.5:c.860C>G	ENSP00000485665.1:p.Thr287Arg
ENST00000475995.3:c.414C>G
ENST00000491939.6:c.821C>G	ENSP00000485543.1:p.Thr274Arg
ENST00000494454.5:n.991C>G
ENST00000542719.6:c.629C>G	ENSP00000485128.2:p.Thr210Arg
ENST00000634537.1:c.146C>G	ENSP00000489208.1:p.Thr49Arg
ENST00000635155.1:n.503C>G
NM_001282512.1:c.917C>G	NP_001269441.1:p.Thr306Arg
NM_006440.4:c.917C>G	NP_006431.2:p.Thr306Arg
NM_001282512.2:c.917C>G	NP_001269441.1:p.Thr306Arg
NM_001352300.1:c.914C>G	NP_001339229.1:p.Thr305Arg
NM_001352301.1:c.827C>G	NP_001339230.1:p.Thr276Arg
NM_001352302.1:c.629C>G	NP_001339231.1:p.Thr210Arg
NM_001352303.1:c.821C>G	NP_001339232.1:p.Thr274Arg
NR_147957.1:n.1049C>G
NM_006440.5:c.917C>G MANE Select	NP_006431.2:p.Thr306Arg
NM_001282512.3:c.917C>G	NP_001269441.1:p.Thr306Arg
NM_001352300.2:c.914C>G	NP_001339229.1:p.Thr305Arg
NR_147957.2:n.875C>G
NM_001352301.2:c.827C>G	NP_001339230.1:p.Thr276Arg
NM_001352302.2:c.629C>G	NP_001339231.1:p.Thr210Arg
NM_001352303.2:c.821C>G	NP_001339232.1:p.Thr274Arg