Canonical Allele Identifier: CA2580088808

Gene: POMT2

Linked Data

• ClinVar Variation Id: 2020947
• ClinVar RCV Id: RCV002857662

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278839_77278862del , CM000676.2:g.77278839_77278862del	GRCh38
NC_000014.8:g.77745182_77745205del , CM000676.1:g.77745182_77745205del	GRCh37
NC_000014.7:g.76814935_76814958del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.836_859del
ENST00000556394.2:c.1452_1475del	ENSP00000451967.2:p.Arg485_Leu492del
ENST00000682128.1:c.212_235del	ENSP00000506976.1:n.212_235del
ENST00000682247.1:c.1900_1923del
ENST00000682395.1:n.2375_2398del
ENST00000682459.1:n.1614_1637del
ENST00000682467.1:c.1892-342_1892-319del	ENSP00000508062.1:n.1892-342_1892-319del
ENST00000682615.1:n.265_288del
ENST00000682795.1:c.2058_2081del	ENSP00000507574.1:p.Arg687_Leu694del
ENST00000682895.1:n.1627_1650del
ENST00000682955.1:n.1485_1508del
ENST00000683095.1:c.317_340del	ENSP00000508040.1:n.317_340del
ENST00000683188.1:c.2172_2195del
ENST00000683380.1:n.1575_1598del
ENST00000683828.1:c.1620_1643del
ENST00000683907.1:c.176_199del	ENSP00000507754.1:p.Phe59_Cys66del
ENST00000684172.1:c.287_310del	ENSP00000508391.1:n.287_310del
ENST00000684259.1:n.3678_3701del
ENST00000684538.1:n.1290_1313del
ENST00000684549.1:n.1462_1485del
ENST00000261534.9:c.1911_1934del MANE Select	ENSP00000261534.4:p.Arg638_Leu645del
ENST00000261534.8:c.1911_1934del	ENSP00000261534.4:p.Arg638_Leu645del
ENST00000452340.7:n.2887_2910del
ENST00000554767.5:n.2697_2720del
ENST00000555134.1:n.836_859del
ENST00000555710.1:c.272_295del	ENSP00000451730.1:n.272_295del
ENST00000556171.1:c.503_526del
ENST00000556394.1:c.88-342_88-319del
ENST00000556446.1:n.212_235del
ENST00000602717.5:c.126_149del	ENSP00000487704.1:p.Arg43_Leu50del
XM_011536675.1:c.2100_2123del	XP_011534977.1:p.Arg701_Leu708del
XM_011536676.1:c.1767_1790del	XP_011534978.1:p.Arg590_Leu597del
XM_011536677.1:c.1641_1664del	XP_011534979.1:p.Arg548_Leu555del
XM_011536679.1:c.1194_1217del	XP_011534981.1:p.Arg399_Leu406del
XR_943416.1:n.2164_2187del
XM_011536675.2:c.2100_2123del	XP_011534977.1:p.Arg701_Leu708del
XM_011536676.2:c.1767_1790del	XP_011534978.1:p.Arg590_Leu597del
XM_011536677.3:c.1641_1664del	XP_011534979.1:p.Arg548_Leu555del
XR_001750279.1:n.2197_2220del
XR_001750282.1:n.2850_2873del
XR_943416.3:n.2162_2185del
NM_013382.6:c.1911_1934del	NP_037514.2:p.Arg638_Leu645del
NM_013382.7:c.1911_1934del MANE Select	NP_037514.2:p.Arg638_Leu645del