Canonical Allele Identifier: CA2740097135

Gene: POMT2

Linked Data

• ClinVar Variation Id: 2923579
• ClinVar RCV Id: RCV003783137

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278818_77278834del , CM000676.2:g.77278818_77278834del	GRCh38
NC_000014.8:g.77745161_77745177del , CM000676.1:g.77745161_77745177del	GRCh37
NC_000014.7:g.76814914_76814930del	NCBI36
NG_008897.1:g.47049_47065del , LRG_844:g.47049_47065del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.852_868del
ENST00000556394.2:c.1468_1484del	ENSP00000451967.2:p.Val490ThrfsTer?
ENST00000682128.1:c.228_244del	ENSP00000506976.1:n.228_244del
ENST00000682247.1:c.1916_1932del	ENSP00000507213.1:p.Gly639AspfsTer9
ENST00000682395.1:n.2391_2407del
ENST00000682459.1:n.1630_1646del
ENST00000682467.1:c.1892-326_1892-310del	ENSP00000508062.1:n.1892-326_1892-310del
ENST00000682615.1:n.281_297del
ENST00000682795.1:c.2074_2090del	ENSP00000507574.1:p.Val692ThrfsTer?
ENST00000682895.1:n.1643_1659del
ENST00000682955.1:n.1501_1517del
ENST00000683095.1:c.333_349del	ENSP00000508040.1:n.333_349del
ENST00000683188.1:c.2188_2204del
ENST00000683380.1:n.1591_1607del
ENST00000683828.1:c.1636_1652del
ENST00000683907.1:c.192_208del	ENSP00000507754.1:p.Ser65LeufsTer?
ENST00000684172.1:c.303_319del	ENSP00000508391.1:n.303_319del
ENST00000684259.1:n.3694_3710del
ENST00000684538.1:n.1306_1322del
ENST00000684549.1:n.1478_1494del
ENST00000261534.9:c.1927_1943del MANE Select	ENSP00000261534.4:p.Val643ThrfsTer?
ENST00000261534.8:c.1927_1943del	ENSP00000261534.4:p.Val643ThrfsTer?
ENST00000452340.7:n.2903_2919del
ENST00000554767.5:n.2713_2729del
ENST00000555134.1:n.852_868del
ENST00000555710.1:c.288_304del	ENSP00000451730.1:n.288_304del
ENST00000556171.1:c.519_535del
ENST00000556394.1:c.88-326_88-310del
ENST00000556446.1:n.228_244del
ENST00000602717.5:c.142_158del	ENSP00000487704.1:p.Val48ThrfsTer?
NM_013382.5:c.1927_1943del , LRG_844t1:c.1927_1943del	NP_037514.2:p.Val643ThrfsTer?
XM_011536675.1:c.2116_2132del	XP_011534977.1:p.Val706ThrfsTer?
XM_011536676.1:c.1783_1799del	XP_011534978.1:p.Val595ThrfsTer?
XM_011536677.1:c.1657_1673del	XP_011534979.1:p.Val553ThrfsTer?
XM_011536679.1:c.1210_1226del	XP_011534981.1:p.Val404ThrfsTer?
XR_943416.1:n.2180_2196del
XM_011536675.2:c.2116_2132del	XP_011534977.1:p.Val706ThrfsTer?
XM_011536676.2:c.1783_1799del	XP_011534978.1:p.Val595ThrfsTer?
XM_011536677.3:c.1657_1673del	XP_011534979.1:p.Val553ThrfsTer?
XR_001750279.1:n.2213_2229del
XR_001750282.1:n.2866_2882del
XR_943416.3:n.2178_2194del
NM_013382.6:c.1927_1943del	NP_037514.2:p.Val643ThrfsTer?
NM_013382.7:c.1927_1943del MANE Select	NP_037514.2:p.Val643ThrfsTer?