Canonical Allele Identifier: CA10103964
Gene: TXNRD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 407097
ClinVar RCV Id: RCV000468936
dbSNP Id: rs368200536

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19895511G>A , CM000684.2:g.19895511G>A GRCh38
NC_000022.10:g.19883034G>A , CM000684.1:g.19883034G>A GRCh37
NC_000022.9:g.18263034G>A NCBI36
NG_011835.1:g.51326C>T , LRG_417:g.51326C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000400521.7:c.845C>T MANE Select ENSP00000383365.1:p.Ser282Leu
ENST00000334363.14:c.845C>T ENSP00000334451.9:p.Ser282Leu
ENST00000400518.5:c.755C>T ENSP00000383362.1:p.Ser252Leu
ENST00000400519.6:c.842C>T ENSP00000383363.1:p.Ser281Leu
ENST00000400521.6:c.845C>T ENSP00000383365.1:p.Ser282Leu
ENST00000400525.6:c.776C>T ENSP00000383369.3:p.Ser259Leu
ENST00000474308.5:c.788C>T ENSP00000485665.1:p.Ser263Leu
ENST00000475995.3:c.342C>T
ENST00000491939.6:c.749C>T ENSP00000485543.1:p.Ser250Leu
ENST00000494454.5:n.919C>T
ENST00000542719.6:c.557C>T ENSP00000485128.2:p.Ser186Leu
ENST00000634537.1:c.74C>T ENSP00000489208.1:p.Ser25Leu
ENST00000635155.1:n.431C>T
NM_001282512.1:c.845C>T NP_001269441.1:p.Ser282Leu
NM_006440.4:c.845C>T NP_006431.2:p.Ser282Leu
NM_001282512.2:c.845C>T NP_001269441.1:p.Ser282Leu
NM_001352300.1:c.842C>T NP_001339229.1:p.Ser281Leu
NM_001352301.1:c.755C>T NP_001339230.1:p.Ser252Leu
NM_001352302.1:c.557C>T NP_001339231.1:p.Ser186Leu
NM_001352303.1:c.749C>T NP_001339232.1:p.Ser250Leu
NR_147957.1:n.977C>T
NM_006440.5:c.845C>T MANE Select NP_006431.2:p.Ser282Leu
NM_001282512.3:c.845C>T NP_001269441.1:p.Ser282Leu
NM_001352300.2:c.842C>T NP_001339229.1:p.Ser281Leu
NR_147957.2:n.803C>T
NM_001352301.2:c.755C>T NP_001339230.1:p.Ser252Leu
NM_001352302.2:c.557C>T NP_001339231.1:p.Ser186Leu
NM_001352303.2:c.749C>T NP_001339232.1:p.Ser250Leu