Canonical Allele Identifier: CA2575587530
Gene: POMT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77278493del , CM000676.2:g.77278493del GRCh38
NC_000014.8:g.77744836del , CM000676.1:g.77744836del GRCh37
NC_000014.7:g.76814589del NCBI36
NG_008897.1:g.47392del , LRG_844:g.47392del

Transcript Alleles

HGVS Amino-acid Change
ENST00000555134.2:n.975del
ENST00000556394.2:c.1591del ENSP00000451967.2:p.Leu531SerfsTer24
ENST00000682247.1:c.2039del ENSP00000507213.1:p.Pro680LeufsTer?
ENST00000682395.1:n.2514del
ENST00000682459.1:n.1753del
ENST00000682467.1:c.1909del ENSP00000508062.1:p.Leu637SerfsTer24
ENST00000682795.1:c.2197del ENSP00000507574.1:p.Leu733SerfsTer24
ENST00000682895.1:n.1766del
ENST00000682955.1:n.1624del
ENST00000683188.1:c.2311del
ENST00000683380.1:n.1714del
ENST00000683907.1:c.315del ENSP00000507754.1:n.315del
ENST00000684259.1:n.3817del
ENST00000684538.1:n.1429del
ENST00000684549.1:n.1601del
ENST00000261534.9:c.2050del MANE Select ENSP00000261534.4:p.Leu684SerfsTer24
ENST00000261534.8:c.2050del ENSP00000261534.4:p.Leu684SerfsTer24
ENST00000452340.7:n.3026del
ENST00000554767.5:n.2836del
ENST00000555710.1:c.411del ENSP00000451730.1:n.411del
ENST00000556394.1:c.105del
ENST00000556446.1:n.351del
ENST00000602717.5:c.265del ENSP00000487704.1:p.Leu89SerfsTer24
NM_013382.5:c.2050del , LRG_844t1:c.2050del NP_037514.2:p.Leu684SerfsTer24
XM_011536675.1:c.2239del XP_011534977.1:p.Leu747SerfsTer24
XM_011536676.1:c.1906del XP_011534978.1:p.Leu636SerfsTer24
XM_011536677.1:c.1780del XP_011534979.1:p.Leu594SerfsTer24
XM_011536679.1:c.1333del XP_011534981.1:p.Leu445SerfsTer24
XR_943416.1:n.2303del
XM_011536675.2:c.2239del XP_011534977.1:p.Leu747SerfsTer24
XM_011536676.2:c.1906del XP_011534978.1:p.Leu636SerfsTer24
XM_011536677.3:c.1780del XP_011534979.1:p.Leu594SerfsTer24
XR_001750279.1:n.2336del
XR_001750282.1:n.2989del
XR_943416.3:n.2301del
NM_013382.6:c.2050del NP_037514.2:p.Leu684SerfsTer24
NM_013382.7:c.2050del MANE Select NP_037514.2:p.Leu684SerfsTer24