Canonical Allele Identifier: CA223088445
Gene: TMX2 HGNC NCBI
TMX2-CTNND1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.57738679G>T , CM000673.2:g.57738679G>T GRCh38
NC_000011.9:g.57506151G>T , CM000673.1:g.57506151G>T GRCh37
NC_000011.8:g.57262727G>T NCBI36
NG_052993.1:g.31157G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000278422.9:c.457G>T (TMX2) MANE Select ENSP00000278422.4:p.Asp153Tyr
ENST00000673781.1:c.250+1011G>T ENSP00000501282.1:n.250+1011G>T
ENST00000673810.1:c.189+25872G>T ENSP00000501043.1:n.189+25872G>T
ENST00000674060.1:c.104+1011G>T
ENST00000674116.1:c.250+1011G>T ENSP00000501279.1:n.250+1011G>T
ENST00000278422.8:c.457G>T (TMX2) ENSP00000278422.4:p.Asp153Tyr
ENST00000378312.8:c.343G>T (TMX2) ENSP00000367562.4:p.Asp115Tyr
ENST00000524972.5:c.266G>T (TMX2) ENSP00000437257.1:p.Gly89Val
ENST00000525035.5:c.*109G>T (TMX2) ENSP00000431695.1:n.*109G>T
ENST00000528110.5:c.266G>T (TMX2) ENSP00000431333.1:p.Gly89Val
ENST00000528395.1:c.250+1011G>T (TMX2-CTNND1) ENSP00000456881.1:n.250+1011G>T
ENST00000529403.1:c.*186G>T (TMX2) ENSP00000437023.1:n.*186G>T
ENST00000530114.5:c.251-452G>T (TMX2) ENSP00000436013.1:n.251-452G>T
NM_001144012.2:c.343G>T (TMX2) NP_001137484.1:p.Asp115Tyr
NM_015959.3:c.457G>T (TMX2) NP_057043.1:p.Asp153Tyr
NR_026593.2:n.630G>T (TMX2)
NR_037645.1:n.362G>T (TMX2)
NR_037646.1:n.346+1011G>T (TMX2-CTNND1)
NM_001347890.1:c.457G>T (TMX2) NP_001334819.1:p.Asp153Tyr
NM_001347891.1:c.373G>T (TMX2) NP_001334820.1:p.Asp125Tyr
NM_001347892.1:c.250G>T (TMX2) NP_001334821.1:p.Asp84Tyr
NM_001347893.1:c.175G>T (TMX2) NP_001334822.1:p.Asp59Tyr
NM_001347894.1:c.175G>T (TMX2) NP_001334823.1:p.Asp59Tyr
NM_001347895.1:c.175G>T (TMX2) NP_001334824.1:p.Asp59Tyr
NM_001347896.1:c.175G>T (TMX2) NP_001334825.1:p.Asp59Tyr
NM_001347898.1:c.457G>T (TMX2) NP_001334827.1:p.Asp153Tyr
NR_144933.1:n.476G>T (TMX2)
NR_144934.1:n.630G>T (TMX2)
NR_144935.1:n.553G>T (TMX2)
NM_015959.4:c.457G>T (TMX2) MANE Select NP_057043.1:p.Asp153Tyr
NM_001144012.3:c.343G>T (TMX2) NP_001137484.1:p.Asp115Tyr
NM_001347890.2:c.457G>T (TMX2) NP_001334819.1:p.Asp153Tyr
NM_001347891.2:c.373G>T (TMX2) NP_001334820.1:p.Asp125Tyr
NM_001347892.2:c.250G>T (TMX2) NP_001334821.1:p.Asp84Tyr
NM_001347893.2:c.175G>T (TMX2) NP_001334822.1:p.Asp59Tyr
NM_001347894.2:c.175G>T (TMX2) NP_001334823.1:p.Asp59Tyr
NM_001347895.2:c.175G>T (TMX2) NP_001334824.1:p.Asp59Tyr
NM_001347896.2:c.175G>T (TMX2) NP_001334825.1:p.Asp59Tyr
NM_001347898.2:c.457G>T (TMX2) NP_001334827.1:p.Asp153Tyr
NR_037645.2:n.292G>T (TMX2)
NR_144933.2:n.406G>T (TMX2)
NR_144934.2:n.560G>T (TMX2)
NR_144935.2:n.483G>T (TMX2)