Canonical Allele Identifier: CA322098994

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 1766614
• ClinVar RCV Id: RCV002371655
• dbSNP Id: rs187065627
• gnomAD v3: 22-19895423-G-T
• gnomAD v4: 22-19895423-G-T
• MyVariant Identifiers: chr22:g.19882946G>T (hg19) ; chr22:g.19895423G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19895423G>T , CM000684.2:g.19895423G>T	GRCh38
NC_000022.10:g.19882946G>T , CM000684.1:g.19882946G>T	GRCh37
NC_000022.9:g.18262946G>T	NCBI36
NG_011835.1:g.51414C>A , LRG_417:g.51414C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000400521.7:c.933C>A MANE Select	ENSP00000383365.1:p.Thr311=
ENST00000334363.14:c.933C>A	ENSP00000334451.9:p.Thr311=
ENST00000400518.5:c.843C>A	ENSP00000383362.1:p.Thr281=
ENST00000400519.6:c.930C>A	ENSP00000383363.1:p.Thr310=
ENST00000400521.6:c.933C>A	ENSP00000383365.1:p.Thr311=
ENST00000400525.6:c.864C>A	ENSP00000383369.3:p.Thr288=
ENST00000474308.5:c.876C>A	ENSP00000485665.1:p.Thr292=
ENST00000475995.3:c.430C>A
ENST00000491939.6:c.837C>A	ENSP00000485543.1:p.Thr279=
ENST00000494454.5:n.1007C>A
ENST00000542719.6:c.645C>A	ENSP00000485128.2:p.Thr215=
ENST00000634537.1:c.162C>A	ENSP00000489208.1:p.Thr54=
ENST00000635155.1:n.519C>A
NM_001282512.1:c.933C>A	NP_001269441.1:p.Thr311=
NM_006440.4:c.933C>A	NP_006431.2:p.Thr311=
NM_001282512.2:c.933C>A	NP_001269441.1:p.Thr311=
NM_001352300.1:c.930C>A	NP_001339229.1:p.Thr310=
NM_001352301.1:c.843C>A	NP_001339230.1:p.Thr281=
NM_001352302.1:c.645C>A	NP_001339231.1:p.Thr215=
NM_001352303.1:c.837C>A	NP_001339232.1:p.Thr279=
NR_147957.1:n.1065C>A
NM_006440.5:c.933C>A MANE Select	NP_006431.2:p.Thr311=
NM_001282512.3:c.933C>A	NP_001269441.1:p.Thr311=
NM_001352300.2:c.930C>A	NP_001339229.1:p.Thr310=
NR_147957.2:n.891C>A
NM_001352301.2:c.843C>A	NP_001339230.1:p.Thr281=
NM_001352302.2:c.645C>A	NP_001339231.1:p.Thr215=
NM_001352303.2:c.837C>A	NP_001339232.1:p.Thr279=