Canonical Allele Identifier: CA2740097136
Gene: POMT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2927141
ClinVar RCV Id: RCV003781331

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77278849_77278850delinsAC , CM000676.2:g.77278849_77278850delinsAC GRCh38
NC_000014.8:g.77745192_77745193delinsAC , CM000676.1:g.77745192_77745193delinsAC GRCh37
NC_000014.7:g.76814945_76814946delinsAC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000555134.2:n.836_837delinsGT
ENST00000556394.2:c.1452_1453delinsGT ENSP00000451967.2:p.Leu485Ter
ENST00000682128.1:c.212_213delinsGT ENSP00000506976.1:n.212_213delinsGT
ENST00000682247.1:c.1900_1901delinsGT ENSP00000507213.1:p.Ser634Val
ENST00000682395.1:n.2375_2376delinsGT
ENST00000682459.1:n.1614_1615delinsGT
ENST00000682467.1:c.1892-342_1892-341delinsGT ENSP00000508062.1:n.1892-342_1892-341delinsGT
ENST00000682615.1:n.265_266delinsGT
ENST00000682795.1:c.2058_2059delinsGT ENSP00000507574.1:p.Leu687Ter
ENST00000682895.1:n.1627_1628delinsGT
ENST00000682955.1:n.1485_1486delinsGT
ENST00000683095.1:c.317_318delinsGT ENSP00000508040.1:n.317_318delinsGT
ENST00000683188.1:c.2172_2173delinsGT
ENST00000683380.1:n.1575_1576delinsGT
ENST00000683828.1:c.1620_1621delinsGT
ENST00000683907.1:c.176_177delinsGT ENSP00000507754.1:p.Phe59Cys
ENST00000684172.1:c.287_288delinsGT ENSP00000508391.1:n.287_288delinsGT
ENST00000684259.1:n.3678_3679delinsGT
ENST00000684538.1:n.1290_1291delinsGT
ENST00000684549.1:n.1462_1463delinsGT
ENST00000261534.9:c.1911_1912delinsGT MANE Select ENSP00000261534.4:p.Leu638Ter
ENST00000261534.8:c.1911_1912delinsGT ENSP00000261534.4:p.Leu638Ter
ENST00000452340.7:n.2887_2888delinsGT
ENST00000554767.5:n.2697_2698delinsGT
ENST00000555134.1:n.836_837delinsGT
ENST00000555710.1:c.272_273delinsGT ENSP00000451730.1:n.272_273delinsGT
ENST00000556171.1:c.503_504delinsGT
ENST00000556394.1:c.88-342_88-341delinsGT
ENST00000556446.1:n.212_213delinsGT
ENST00000602717.5:c.126_127delinsGT ENSP00000487704.1:p.Leu43Ter
XM_011536675.1:c.2100_2101delinsGT XP_011534977.1:p.Leu701Ter
XM_011536676.1:c.1767_1768delinsGT XP_011534978.1:p.Leu590Ter
XM_011536677.1:c.1641_1642delinsGT XP_011534979.1:p.Leu548Ter
XM_011536679.1:c.1194_1195delinsGT XP_011534981.1:p.Leu399Ter
XR_943416.1:n.2164_2165delinsGT
XM_011536675.2:c.2100_2101delinsGT XP_011534977.1:p.Leu701Ter
XM_011536676.2:c.1767_1768delinsGT XP_011534978.1:p.Leu590Ter
XM_011536677.3:c.1641_1642delinsGT XP_011534979.1:p.Leu548Ter
XR_001750279.1:n.2197_2198delinsGT
XR_001750282.1:n.2850_2851delinsGT
XR_943416.3:n.2162_2163delinsGT
NM_013382.6:c.1911_1912delinsGT NP_037514.2:p.Leu638Ter
NM_013382.7:c.1911_1912delinsGT MANE Select NP_037514.2:p.Leu638Ter