Canonical Allele Identifier: CA410693750
Gene: TXNRD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1489703
ClinVar RCV Id: RCV002001567
dbSNP Id: rs758941896

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19918899T>A , CM000684.2:g.19918899T>A GRCh38
NC_000022.10:g.19906422T>A , CM000684.1:g.19906422T>A GRCh37
NC_000022.9:g.18286422T>A NCBI36
NG_011835.1:g.27938A>T , LRG_417:g.27938A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000400521.7:c.335A>T MANE Select ENSP00000383365.1:p.Asn112Ile
ENST00000334363.14:c.335A>T ENSP00000334451.9:p.Asn112Ile
ENST00000400518.5:c.245A>T ENSP00000383362.1:p.Asn82Ile
ENST00000400519.6:c.332A>T ENSP00000383363.1:p.Asn111Ile
ENST00000400521.6:c.335A>T ENSP00000383365.1:p.Asn112Ile
ENST00000400525.6:c.266A>T ENSP00000383369.3:p.Asn89Ile
ENST00000474308.5:c.278A>T ENSP00000485665.1:p.Asn93Ile
ENST00000491939.6:c.239A>T ENSP00000485543.1:p.Asn80Ile
ENST00000496729.2:n.340A>T
ENST00000542719.6:c.47A>T ENSP00000485128.2:p.Asn16Ile
NM_001282512.1:c.335A>T NP_001269441.1:p.Asn112Ile
NM_006440.4:c.335A>T NP_006431.2:p.Asn112Ile
NM_001282512.2:c.335A>T NP_001269441.1:p.Asn112Ile
NM_001352300.1:c.332A>T NP_001339229.1:p.Asn111Ile
NM_001352301.1:c.245A>T NP_001339230.1:p.Asn82Ile
NM_001352302.1:c.47A>T NP_001339231.1:p.Asn16Ile
NM_001352303.1:c.239A>T NP_001339232.1:p.Asn80Ile
NR_147957.1:n.467A>T
NM_006440.5:c.335A>T MANE Select NP_006431.2:p.Asn112Ile
NM_001282512.3:c.335A>T NP_001269441.1:p.Asn112Ile
NM_001352300.2:c.332A>T NP_001339229.1:p.Asn111Ile
NR_147957.2:n.293A>T
NM_001352301.2:c.245A>T NP_001339230.1:p.Asn82Ile
NM_001352302.2:c.47A>T NP_001339231.1:p.Asn16Ile
NM_001352303.2:c.239A>T NP_001339232.1:p.Asn80Ile