Canonical Allele Identifier: CA410686755
Gene: TXNRD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19895563T>A , CM000684.2:g.19895563T>A GRCh38
NC_000022.10:g.19883086T>A , CM000684.1:g.19883086T>A GRCh37
NC_000022.9:g.18263086T>A NCBI36
NG_011835.1:g.51274A>T , LRG_417:g.51274A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400521.7:c.793A>T MANE Select ENSP00000383365.1:p.Ile265Leu
ENST00000334363.14:c.793A>T ENSP00000334451.9:p.Ile265Leu
ENST00000400518.5:c.703A>T ENSP00000383362.1:p.Ile235Leu
ENST00000400519.6:c.790A>T ENSP00000383363.1:p.Ile264Leu
ENST00000400521.6:c.793A>T ENSP00000383365.1:p.Ile265Leu
ENST00000400525.6:c.724A>T ENSP00000383369.3:p.Ile242Leu
ENST00000474308.5:c.736A>T ENSP00000485665.1:p.Ile246Leu
ENST00000475995.3:c.290A>T
ENST00000491939.6:c.697A>T ENSP00000485543.1:p.Ile233Leu
ENST00000494454.5:n.867A>T
ENST00000542719.6:c.505A>T ENSP00000485128.2:p.Ile169Leu
ENST00000634537.1:c.22A>T ENSP00000489208.1:p.Ile8Leu
ENST00000635155.1:n.379A>T
NM_001282512.1:c.793A>T NP_001269441.1:p.Ile265Leu
NM_006440.4:c.793A>T NP_006431.2:p.Ile265Leu
NM_001282512.2:c.793A>T NP_001269441.1:p.Ile265Leu
NM_001352300.1:c.790A>T NP_001339229.1:p.Ile264Leu
NM_001352301.1:c.703A>T NP_001339230.1:p.Ile235Leu
NM_001352302.1:c.505A>T NP_001339231.1:p.Ile169Leu
NM_001352303.1:c.697A>T NP_001339232.1:p.Ile233Leu
NR_147957.1:n.925A>T
NM_006440.5:c.793A>T MANE Select NP_006431.2:p.Ile265Leu
NM_001282512.3:c.793A>T NP_001269441.1:p.Ile265Leu
NM_001352300.2:c.790A>T NP_001339229.1:p.Ile264Leu
NR_147957.2:n.751A>T
NM_001352301.2:c.703A>T NP_001339230.1:p.Ile235Leu
NM_001352302.2:c.505A>T NP_001339231.1:p.Ile169Leu
NM_001352303.2:c.697A>T NP_001339232.1:p.Ile233Leu