Canonical Allele Identifier: CA2625845844
Gene: POMT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77278850_77278851insGCAGGACCTGGCCGCCTCCTCGC , CM000676.2:g.77278850_77278851insGCAGGACCTGGCCGCCTCCTCGC GRCh38
NC_000014.8:g.77745193_77745194insGCAGGACCTGGCCGCCTCCTCGC , CM000676.1:g.77745193_77745194insGCAGGACCTGGCCGCCTCCTCGC GRCh37
NC_000014.7:g.76814946_76814947insGCAGGACCTGGCCGCCTCCTCGC NCBI36
NG_008897.1:g.47032_47033insGCGAGGAGGCGGCCAGGTCCTGC , LRG_844:g.47032_47033insGCGAGGAGGCGGCCAGGTCCTGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000555134.2:n.835_836insGCGAGGAGGCGGCCAGGTCCTGC
ENST00000556394.2:c.1451_1452insGCGAGGAGGCGGCCAGGTCCTGC ENSP00000451967.2:p.Gly493GlufsTer19
ENST00000682128.1:c.211_212insGCGAGGAGGCGGCCAGGTCCTGC ENSP00000506976.1:n.211_212insGCGAGGAGGCGGCCAGGTCCTGC
ENST00000682247.1:c.1899_1900insGCGAGGAGGCGGCCAGGTCCTGC ENSP00000507213.1:p.Ser634AlafsTer?
ENST00000682395.1:n.2374_2375insGCGAGGAGGCGGCCAGGTCCTGC
ENST00000682459.1:n.1613_1614insGCGAGGAGGCGGCCAGGTCCTGC
ENST00000682467.1:c.1892-343_1892-342insGCGAGGAGGCGGCCAGGTCCTGC ENSP00000508062.1:n.1892-343_1892-342insGCGAGGAGGCGGCCAGGTCCT...
ENST00000682615.1:n.264_265insGCGAGGAGGCGGCCAGGTCCTGC
ENST00000682795.1:c.2057_2058insGCGAGGAGGCGGCCAGGTCCTGC ENSP00000507574.1:p.Gly695GlufsTer19
ENST00000682895.1:n.1626_1627insGCGAGGAGGCGGCCAGGTCCTGC
ENST00000682955.1:n.1484_1485insGCGAGGAGGCGGCCAGGTCCTGC
ENST00000683095.1:c.316_317insGCGAGGAGGCGGCCAGGTCCTGC ENSP00000508040.1:n.316_317insGCGAGGAGGCGGCCAGGTCCTGC
ENST00000683188.1:c.2171_2172insGCGAGGAGGCGGCCAGGTCCTGC
ENST00000683380.1:n.1574_1575insGCGAGGAGGCGGCCAGGTCCTGC
ENST00000683828.1:c.1619_1620insGCGAGGAGGCGGCCAGGTCCTGC
ENST00000683907.1:c.175_176insGCGAGGAGGCGGCCAGGTCCTGC ENSP00000507754.1:p.Phe59CysfsTer?
ENST00000684172.1:c.286_287insGCGAGGAGGCGGCCAGGTCCTGC ENSP00000508391.1:n.286_287insGCGAGGAGGCGGCCAGGTCCTGC
ENST00000684259.1:n.3677_3678insGCGAGGAGGCGGCCAGGTCCTGC
ENST00000684538.1:n.1289_1290insGCGAGGAGGCGGCCAGGTCCTGC
ENST00000684549.1:n.1461_1462insGCGAGGAGGCGGCCAGGTCCTGC
ENST00000261534.9:c.1910_1911insGCGAGGAGGCGGCCAGGTCCTGC MANE Select ENSP00000261534.4:p.Gly646GlufsTer19
ENST00000261534.8:c.1910_1911insGCGAGGAGGCGGCCAGGTCCTGC ENSP00000261534.4:p.Gly646GlufsTer19
ENST00000452340.7:n.2886_2887insGCGAGGAGGCGGCCAGGTCCTGC
ENST00000554767.5:n.2696_2697insGCGAGGAGGCGGCCAGGTCCTGC
ENST00000555134.1:n.835_836insGCGAGGAGGCGGCCAGGTCCTGC
ENST00000555710.1:c.271_272insGCGAGGAGGCGGCCAGGTCCTGC ENSP00000451730.1:n.271_272insGCGAGGAGGCGGCCAGGTCCTGC
ENST00000556171.1:c.502_503insGCGAGGAGGCGGCCAGGTCCTGC
ENST00000556394.1:c.88-343_88-342insGCGAGGAGGCGGCCAGGTCCTGC
ENST00000556446.1:n.211_212insGCGAGGAGGCGGCCAGGTCCTGC
ENST00000602717.5:c.125_126insGCGAGGAGGCGGCCAGGTCCTGC ENSP00000487704.1:p.Gly51GlufsTer19
NM_013382.5:c.1910_1911insGCGAGGAGGCGGCCAGGTCCTGC , LRG_844t1:c.1910_1911insGCGAGGAGGCGGCCAGGTCCTGC NP_037514.2:p.Leu645ArgfsTer20
XM_011536675.1:c.2099_2100insGCGAGGAGGCGGCCAGGTCCTGC XP_011534977.1:p.Gly709GlufsTer19
XM_011536676.1:c.1766_1767insGCGAGGAGGCGGCCAGGTCCTGC XP_011534978.1:p.Gly598GlufsTer19
XM_011536677.1:c.1640_1641insGCGAGGAGGCGGCCAGGTCCTGC XP_011534979.1:p.Gly556GlufsTer19
XM_011536679.1:c.1193_1194insGCGAGGAGGCGGCCAGGTCCTGC XP_011534981.1:p.Gly407GlufsTer19
XR_943416.1:n.2163_2164insGCGAGGAGGCGGCCAGGTCCTGC
XM_011536675.2:c.2099_2100insGCGAGGAGGCGGCCAGGTCCTGC XP_011534977.1:p.Gly709GlufsTer19
XM_011536676.2:c.1766_1767insGCGAGGAGGCGGCCAGGTCCTGC XP_011534978.1:p.Gly598GlufsTer19
XM_011536677.3:c.1640_1641insGCGAGGAGGCGGCCAGGTCCTGC XP_011534979.1:p.Gly556GlufsTer19
XR_001750279.1:n.2196_2197insGCGAGGAGGCGGCCAGGTCCTGC
XR_001750282.1:n.2849_2850insGCGAGGAGGCGGCCAGGTCCTGC
XR_943416.3:n.2161_2162insGCGAGGAGGCGGCCAGGTCCTGC
NM_013382.6:c.1910_1911insGCGAGGAGGCGGCCAGGTCCTGC NP_037514.2:p.Gly646GlufsTer19
NM_013382.7:c.1910_1911insGCGAGGAGGCGGCCAGGTCCTGC MANE Select NP_037514.2:p.Gly646GlufsTer19