Canonical Allele Identifier: CA6009488

Gene: TMX2 TMX2-CTNND1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57712798C>G , CM000673.2:g.57712798C>G	GRCh38
NC_000011.9:g.57480270C>G , CM000673.1:g.57480270C>G	GRCh37
NC_000011.8:g.57236846C>G	NCBI36
NG_052993.1:g.5276C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015959.4:c.180C>G (TMX2) MANE Select	NP_057043.1:p.Asp60Glu
ENST00000278422.9:c.180C>G (TMX2) MANE Select	ENSP00000278422.4:p.Asp60Glu
NM_001144012.2:c.180C>G (TMX2)	NP_001137484.1:p.Asp60Glu
NM_001144012.3:c.180C>G (TMX2)	NP_001137484.1:p.Asp60Glu
NM_001347890.1:c.180C>G (TMX2)	NP_001334819.1:p.Asp60Glu
NM_001347890.2:c.180C>G (TMX2)	NP_001334819.1:p.Asp60Glu
NM_001347891.1:c.166+14C>G (TMX2)	NP_001334820.1:n.166+14C>G
NM_001347891.2:c.166+14C>G (TMX2)	NP_001334820.1:n.166+14C>G
NM_001347892.1:c.-19+14C>G (TMX2)	NP_001334821.1:n.-19+14C>G
NM_001347892.2:c.-19+14C>G (TMX2)	NP_001334821.1:n.-19+14C>G
NM_001347893.1:c.-180C>G (TMX2)	NP_001334822.1:n.-180C>G
NM_001347893.2:c.-180C>G (TMX2)	NP_001334822.1:n.-180C>G
NM_001347894.1:c.-180C>G (TMX2)	NP_001334823.1:n.-180C>G
NM_001347894.2:c.-180C>G (TMX2)	NP_001334823.1:n.-180C>G
NM_001347895.1:c.-230C>G (TMX2)	NP_001334824.1:n.-230C>G
NM_001347895.2:c.-230C>G (TMX2)	NP_001334824.1:n.-230C>G
NM_001347896.1:c.-171+14C>G (TMX2)	NP_001334825.1:n.-171+14C>G
NM_001347896.2:c.-171+14C>G (TMX2)	NP_001334825.1:n.-171+14C>G
NM_001347898.1:c.180C>G (TMX2)	NP_001334827.1:p.Asp60Glu
NM_001347898.2:c.180C>G (TMX2)	NP_001334827.1:p.Asp60Glu
NM_015959.3:c.180C>G (TMX2)	NP_057043.1:p.Asp60Glu
NR_026593.2:n.276C>G (TMX2)
NR_037645.1:n.276C>G (TMX2)
NR_037645.2:n.206C>G (TMX2)
NR_037646.1:n.276C>G (TMX2-CTNND1)
NR_144933.1:n.276C>G (TMX2)
NR_144933.2:n.206C>G (TMX2)
NR_144934.1:n.276C>G (TMX2)
NR_144934.2:n.206C>G (TMX2)
NR_144935.1:n.276C>G (TMX2)
NR_144935.2:n.206C>G (TMX2)
ENST00000278422.8:c.180C>G (TMX2)	ENSP00000278422.4:p.Asp60Glu
ENST00000378312.8:c.180C>G (TMX2)	ENSP00000367562.4:p.Asp60Glu
ENST00000524972.5:c.180C>G (TMX2)	ENSP00000437257.1:p.Asp60Glu
ENST00000525035.5:c.180C>G (TMX2)	ENSP00000431695.1:p.Asp60Glu
ENST00000528042.1:n.174C>G (TMX2)
ENST00000528110.5:c.180C>G (TMX2)	ENSP00000431333.1:p.Asp60Glu
ENST00000528395.1:c.180C>G (TMX2-CTNND1)	ENSP00000456881.1:p.Asp60Glu
ENST00000529403.1:c.180C>G (TMX2)	ENSP00000437023.1:p.Asp60Glu
ENST00000530114.5:c.180C>G (TMX2)	ENSP00000436013.1:p.Asp60Glu
ENST00000533602.5:c.180C>G (TMX2)	ENSP00000434002.1:p.Asp60Glu
ENST00000673781.1:c.180C>G	ENSP00000501282.1:p.Asp60Glu
ENST00000673810.1:c.180C>G	ENSP00000501043.1:p.Asp60Glu
ENST00000674060.1:c.34C>G
ENST00000674116.1:c.180C>G	ENSP00000501279.1:p.Asp60Glu