Canonical Allele Identifier: CA154757
Gene: POMT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77278850A= , CM000676.2:g.77278850A= GRCh38
NC_000014.8:g.77745193A= , CM000676.1:g.77745193A= GRCh37
NC_000014.7:g.76814946A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000555134.2:n.836T=
ENST00000556394.2:c.1452T= ENSP00000451967.2:p.Leu484=
ENST00000682128.1:c.212T= ENSP00000506976.1:n.212T=
ENST00000682247.1:c.1900T= ENSP00000507213.1:p.Ser634=
ENST00000682395.1:n.2375T=
ENST00000682459.1:n.1614T=
ENST00000682467.1:c.1892-342T= ENSP00000508062.1:n.1892-342T=
ENST00000682615.1:n.265T=
ENST00000682795.1:c.2058T= ENSP00000507574.1:p.Leu686=
ENST00000682895.1:n.1627T=
ENST00000682955.1:n.1485T=
ENST00000683095.1:c.317T= ENSP00000508040.1:n.317T=
ENST00000683188.1:c.2172T=
ENST00000683380.1:n.1575T=
ENST00000683828.1:c.1620T=
ENST00000683907.1:c.176T= ENSP00000507754.1:p.Phe59=
ENST00000684172.1:c.287T= ENSP00000508391.1:n.287T=
ENST00000684259.1:n.3678T=
ENST00000684538.1:n.1290T=
ENST00000684549.1:n.1462T=
ENST00000261534.9:c.1911T= MANE Select ENSP00000261534.4:p.Leu637=
ENST00000261534.8:c.1911T= ENSP00000261534.4:p.Leu637=
ENST00000452340.7:n.2887T=
ENST00000554767.5:n.2697T=
ENST00000555134.1:n.836T=
ENST00000555710.1:c.272T= ENSP00000451730.1:n.272T=
ENST00000556171.1:c.503T=
ENST00000556394.1:c.88-342T=
ENST00000556446.1:n.212T=
ENST00000602717.5:c.126T= ENSP00000487704.1:p.Leu42=
XM_011536675.1:c.2100T= XP_011534977.1:p.Leu700=
XM_011536676.1:c.1767T= XP_011534978.1:p.Leu589=
XM_011536677.1:c.1641T= XP_011534979.1:p.Leu547=
XM_011536679.1:c.1194T= XP_011534981.1:p.Leu398=
XR_943416.1:n.2164T=
XM_011536675.2:c.2100T= XP_011534977.1:p.Leu700=
XM_011536676.2:c.1767T= XP_011534978.1:p.Leu589=
XM_011536677.3:c.1641T= XP_011534979.1:p.Leu547=
XR_001750279.1:n.2197T=
XR_001750282.1:n.2850T=
XR_943416.3:n.2162T=
NM_013382.6:c.1911T= NP_037514.2:p.Leu637=
NM_013382.7:c.1911T= MANE Select NP_037514.2:p.Leu637=