Canonical Allele Identifier: CA380719067
Gene: TMX2 HGNC NCBI
TMX2-CTNND1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.57738688G>T , CM000673.2:g.57738688G>T GRCh38
NC_000011.9:g.57506160G>T , CM000673.1:g.57506160G>T GRCh37
NC_000011.8:g.57262736G>T NCBI36
NG_052993.1:g.31166G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000278422.9:c.466G>T (TMX2) MANE Select ENSP00000278422.4:p.Val156Phe
ENST00000673781.1:c.250+1020G>T ENSP00000501282.1:n.250+1020G>T
ENST00000673810.1:c.189+25881G>T ENSP00000501043.1:n.189+25881G>T
ENST00000674060.1:c.104+1020G>T
ENST00000674116.1:c.250+1020G>T ENSP00000501279.1:n.250+1020G>T
ENST00000278422.8:c.466G>T (TMX2) ENSP00000278422.4:p.Val156Phe
ENST00000378312.8:c.352G>T (TMX2) ENSP00000367562.4:p.Val118Phe
ENST00000524972.5:c.275G>T (TMX2) ENSP00000437257.1:p.Gly92Val
ENST00000525035.5:c.*118G>T (TMX2) ENSP00000431695.1:n.*118G>T
ENST00000528110.5:c.275G>T (TMX2) ENSP00000431333.1:p.Gly92Val
ENST00000528395.1:c.250+1020G>T (TMX2-CTNND1) ENSP00000456881.1:n.250+1020G>T
ENST00000529403.1:c.*195G>T (TMX2) ENSP00000437023.1:n.*195G>T
ENST00000530114.5:c.251-443G>T (TMX2) ENSP00000436013.1:n.251-443G>T
NM_001144012.2:c.352G>T (TMX2) NP_001137484.1:p.Val118Phe
NM_015959.3:c.466G>T (TMX2) NP_057043.1:p.Val156Phe
NR_026593.2:n.639G>T (TMX2)
NR_037645.1:n.371G>T (TMX2)
NR_037646.1:n.346+1020G>T (TMX2-CTNND1)
NM_001347890.1:c.466G>T (TMX2) NP_001334819.1:p.Val156Phe
NM_001347891.1:c.382G>T (TMX2) NP_001334820.1:p.Val128Phe
NM_001347892.1:c.259G>T (TMX2) NP_001334821.1:p.Val87Phe
NM_001347893.1:c.184G>T (TMX2) NP_001334822.1:p.Val62Phe
NM_001347894.1:c.184G>T (TMX2) NP_001334823.1:p.Val62Phe
NM_001347895.1:c.184G>T (TMX2) NP_001334824.1:p.Val62Phe
NM_001347896.1:c.184G>T (TMX2) NP_001334825.1:p.Val62Phe
NM_001347898.1:c.466G>T (TMX2) NP_001334827.1:p.Val156Phe
NR_144933.1:n.485G>T (TMX2)
NR_144934.1:n.639G>T (TMX2)
NR_144935.1:n.562G>T (TMX2)
NM_015959.4:c.466G>T (TMX2) MANE Select NP_057043.1:p.Val156Phe
NM_001144012.3:c.352G>T (TMX2) NP_001137484.1:p.Val118Phe
NM_001347890.2:c.466G>T (TMX2) NP_001334819.1:p.Val156Phe
NM_001347891.2:c.382G>T (TMX2) NP_001334820.1:p.Val128Phe
NM_001347892.2:c.259G>T (TMX2) NP_001334821.1:p.Val87Phe
NM_001347893.2:c.184G>T (TMX2) NP_001334822.1:p.Val62Phe
NM_001347894.2:c.184G>T (TMX2) NP_001334823.1:p.Val62Phe
NM_001347895.2:c.184G>T (TMX2) NP_001334824.1:p.Val62Phe
NM_001347896.2:c.184G>T (TMX2) NP_001334825.1:p.Val62Phe
NM_001347898.2:c.466G>T (TMX2) NP_001334827.1:p.Val156Phe
NR_037645.2:n.301G>T (TMX2)
NR_144933.2:n.415G>T (TMX2)
NR_144934.2:n.569G>T (TMX2)
NR_144935.2:n.492G>T (TMX2)