Canonical Allele Identifier: CA410686390

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 3185218
• ClinVar RCV Id: RCV004484069
• MyVariant Identifiers: chr22:g.19882956G>A (hg19) ; chr22:g.19895433G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19895433G>A , CM000684.2:g.19895433G>A	GRCh38
NC_000022.10:g.19882956G>A , CM000684.1:g.19882956G>A	GRCh37
NC_000022.9:g.18262956G>A	NCBI36
NG_011835.1:g.51404C>T , LRG_417:g.51404C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.923C>T MANE Select	ENSP00000383365.1:p.Thr308Ile
ENST00000334363.14:c.923C>T	ENSP00000334451.9:p.Thr308Ile
ENST00000400518.5:c.833C>T	ENSP00000383362.1:p.Thr278Ile
ENST00000400519.6:c.920C>T	ENSP00000383363.1:p.Thr307Ile
ENST00000400521.6:c.923C>T	ENSP00000383365.1:p.Thr308Ile
ENST00000400525.6:c.854C>T	ENSP00000383369.3:p.Thr285Ile
ENST00000474308.5:c.866C>T	ENSP00000485665.1:p.Thr289Ile
ENST00000475995.3:c.420C>T
ENST00000491939.6:c.827C>T	ENSP00000485543.1:p.Thr276Ile
ENST00000494454.5:n.997C>T
ENST00000542719.6:c.635C>T	ENSP00000485128.2:p.Thr212Ile
ENST00000634537.1:c.152C>T	ENSP00000489208.1:p.Thr51Ile
ENST00000635155.1:n.509C>T
NM_001282512.1:c.923C>T	NP_001269441.1:p.Thr308Ile
NM_006440.4:c.923C>T	NP_006431.2:p.Thr308Ile
NM_001282512.2:c.923C>T	NP_001269441.1:p.Thr308Ile
NM_001352300.1:c.920C>T	NP_001339229.1:p.Thr307Ile
NM_001352301.1:c.833C>T	NP_001339230.1:p.Thr278Ile
NM_001352302.1:c.635C>T	NP_001339231.1:p.Thr212Ile
NM_001352303.1:c.827C>T	NP_001339232.1:p.Thr276Ile
NR_147957.1:n.1055C>T
NM_006440.5:c.923C>T MANE Select	NP_006431.2:p.Thr308Ile
NM_001282512.3:c.923C>T	NP_001269441.1:p.Thr308Ile
NM_001352300.2:c.920C>T	NP_001339229.1:p.Thr307Ile
NR_147957.2:n.881C>T
NM_001352301.2:c.833C>T	NP_001339230.1:p.Thr278Ile
NM_001352302.2:c.635C>T	NP_001339231.1:p.Thr212Ile
NM_001352303.2:c.827C>T	NP_001339232.1:p.Thr276Ile