Canonical Allele Identifier: CA513365187
Gene: TXNRD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.19883003C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19895480C>G , CM000684.2:g.19895480C>G GRCh38
NC_000022.10:g.19883003C>G , CM000684.1:g.19883003C>G GRCh37
NC_000022.9:g.18263003C>G NCBI36
NG_011835.1:g.51357G>C , LRG_417:g.51357G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000400521.7:c.876G>C MANE Select ENSP00000383365.1:p.Leu292=
ENST00000334363.14:c.876G>C ENSP00000334451.9:p.Leu292=
ENST00000400518.5:c.786G>C ENSP00000383362.1:p.Leu262=
ENST00000400519.6:c.873G>C ENSP00000383363.1:p.Leu291=
ENST00000400521.6:c.876G>C ENSP00000383365.1:p.Leu292=
ENST00000400525.6:c.807G>C ENSP00000383369.3:p.Leu269=
ENST00000474308.5:c.819G>C ENSP00000485665.1:p.Leu273=
ENST00000475995.3:c.373G>C
ENST00000491939.6:c.780G>C ENSP00000485543.1:p.Leu260=
ENST00000494454.5:n.950G>C
ENST00000542719.6:c.588G>C ENSP00000485128.2:p.Leu196=
ENST00000634537.1:c.105G>C ENSP00000489208.1:p.Leu35=
ENST00000635155.1:n.462G>C
NM_001282512.1:c.876G>C NP_001269441.1:p.Leu292=
NM_006440.4:c.876G>C NP_006431.2:p.Leu292=
NM_001282512.2:c.876G>C NP_001269441.1:p.Leu292=
NM_001352300.1:c.873G>C NP_001339229.1:p.Leu291=
NM_001352301.1:c.786G>C NP_001339230.1:p.Leu262=
NM_001352302.1:c.588G>C NP_001339231.1:p.Leu196=
NM_001352303.1:c.780G>C NP_001339232.1:p.Leu260=
NR_147957.1:n.1008G>C
NM_006440.5:c.876G>C MANE Select NP_006431.2:p.Leu292=
NM_001282512.3:c.876G>C NP_001269441.1:p.Leu292=
NM_001352300.2:c.873G>C NP_001339229.1:p.Leu291=
NR_147957.2:n.834G>C
NM_001352301.2:c.786G>C NP_001339230.1:p.Leu262=
NM_001352302.2:c.588G>C NP_001339231.1:p.Leu196=
NM_001352303.2:c.780G>C NP_001339232.1:p.Leu260=