Canonical Allele Identifier: CA2516644447
Gene: TXNRD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19918972_19918973insCAGGCAGGTGCCGCCCAGGTACTGCTCCTC , CM000684.2:g.19918972_19918973insCAGGCAGGTGCCGCCCAGGTACTGCTCCTC GRCh38
NC_000022.10:g.19906495_19906496insCAGGCAGGTGCCGCCCAGGTACTGCTCCTC , CM000684.1:g.19906495_19906496insCAGGCAGGTGCCGCCCAGGTACTGCTCCTC GRCh37
NC_000022.9:g.18286495_18286496insCAGGCAGGTGCCGCCCAGGTACTGCTCCTC NCBI36
NG_011835.1:g.27864_27865insGAGGAGCAGTACCTGGGCGGCACCTGCCTG , LRG_417:g.27864_27865insGAGGAGCAGTACCTGGGCGGCACCTGCCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000400521.7:c.261_262insGAGGAGCAGTACCTGGGCGGCACCTGCCTG MANE Select ENSP00000383365.1:p.Val87_Asn88insGluGluGlnTyrLeuGlyGlyThrCys...
ENST00000334363.14:c.261_262insGAGGAGCAGTACCTGGGCGGCACCTGCCTG ENSP00000334451.9:p.Val87_Asn88insGluGluGlnTyrLeuGlyGlyThrCys...
ENST00000400518.5:c.171_172insGAGGAGCAGTACCTGGGCGGCACCTGCCTG ENSP00000383362.1:p.Val57_Asn58insGluGluGlnTyrLeuGlyGlyThrCys...
ENST00000400519.6:c.258_259insGAGGAGCAGTACCTGGGCGGCACCTGCCTG ENSP00000383363.1:p.Val86_Asn87insGluGluGlnTyrLeuGlyGlyThrCys...
ENST00000400521.6:c.261_262insGAGGAGCAGTACCTGGGCGGCACCTGCCTG ENSP00000383365.1:p.Val87_Asn88insGluGluGlnTyrLeuGlyGlyThrCys...
ENST00000400525.6:c.192_193insGAGGAGCAGTACCTGGGCGGCACCTGCCTG ENSP00000383369.3:p.Val64_Asn65insGluGluGlnTyrLeuGlyGlyThrCys...
ENST00000474308.5:c.204_205insGAGGAGCAGTACCTGGGCGGCACCTGCCTG ENSP00000485665.1:p.Val68_Asn69insGluGluGlnTyrLeuGlyGlyThrCys...
ENST00000491939.6:c.165_166insGAGGAGCAGTACCTGGGCGGCACCTGCCTG ENSP00000485543.1:p.Val55_Asn56insGluGluGlnTyrLeuGlyGlyThrCys...
ENST00000496729.2:n.266_267insGAGGAGCAGTACCTGGGCGGCACCTGCCTG
ENST00000542719.6:c.-28_-27insGAGGAGCAGTACCTGGGCGGCACCTGCCTG ENSP00000485128.2:n.-28_-27insGAGGAGCAGTACCTGGGCGGCACCTGCCTG
NM_001282512.1:c.261_262insGAGGAGCAGTACCTGGGCGGCACCTGCCTG NP_001269441.1:p.Val87_Asn88insGluGluGlnTyrLeuGlyGlyThrCysLeu...
NM_006440.4:c.261_262insGAGGAGCAGTACCTGGGCGGCACCTGCCTG NP_006431.2:p.Val87_Asn88insGluGluGlnTyrLeuGlyGlyThrCysLeu
NM_001282512.2:c.261_262insGAGGAGCAGTACCTGGGCGGCACCTGCCTG NP_001269441.1:p.Val87_Asn88insGluGluGlnTyrLeuGlyGlyThrCysLeu...
NM_001352300.1:c.258_259insGAGGAGCAGTACCTGGGCGGCACCTGCCTG NP_001339229.1:p.Val86_Asn87insGluGluGlnTyrLeuGlyGlyThrCysLeu...
NM_001352301.1:c.171_172insGAGGAGCAGTACCTGGGCGGCACCTGCCTG NP_001339230.1:p.Val57_Asn58insGluGluGlnTyrLeuGlyGlyThrCysLeu...
NM_001352302.1:c.-28_-27insGAGGAGCAGTACCTGGGCGGCACCTGCCTG NP_001339231.1:n.-28_-27insGAGGAGCAGTACCTGGGCGGCACCTGCCTG
NM_001352303.1:c.165_166insGAGGAGCAGTACCTGGGCGGCACCTGCCTG NP_001339232.1:p.Val55_Asn56insGluGluGlnTyrLeuGlyGlyThrCysLeu...
NR_147957.1:n.393_394insGAGGAGCAGTACCTGGGCGGCACCTGCCTG
NM_006440.5:c.261_262insGAGGAGCAGTACCTGGGCGGCACCTGCCTG MANE Select NP_006431.2:p.Val87_Asn88insGluGluGlnTyrLeuGlyGlyThrCysLeu
NM_001282512.3:c.261_262insGAGGAGCAGTACCTGGGCGGCACCTGCCTG NP_001269441.1:p.Val87_Asn88insGluGluGlnTyrLeuGlyGlyThrCysLeu...
NM_001352300.2:c.258_259insGAGGAGCAGTACCTGGGCGGCACCTGCCTG NP_001339229.1:p.Val86_Asn87insGluGluGlnTyrLeuGlyGlyThrCysLeu...
NR_147957.2:n.219_220insGAGGAGCAGTACCTGGGCGGCACCTGCCTG
NM_001352301.2:c.171_172insGAGGAGCAGTACCTGGGCGGCACCTGCCTG NP_001339230.1:p.Val57_Asn58insGluGluGlnTyrLeuGlyGlyThrCysLeu...
NM_001352302.2:c.-28_-27insGAGGAGCAGTACCTGGGCGGCACCTGCCTG NP_001339231.1:n.-28_-27insGAGGAGCAGTACCTGGGCGGCACCTGCCTG
NM_001352303.2:c.165_166insGAGGAGCAGTACCTGGGCGGCACCTGCCTG NP_001339232.1:p.Val55_Asn56insGluGluGlnTyrLeuGlyGlyThrCysLeu...