Canonical Allele Identifier: CA2148315539
Gene: POMT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77278849G= , CM000676.2:g.77278849G= GRCh38
NC_000014.8:g.77745192G= , CM000676.1:g.77745192G= GRCh37
NC_000014.7:g.76814945G= NCBI36
NG_008897.1:g.47034C= , LRG_844:g.47034C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000555134.2:n.837C=
ENST00000556394.2:c.1453C= ENSP00000451967.2:p.Arg485=
ENST00000682128.1:c.213C= ENSP00000506976.1:n.213C=
ENST00000682247.1:c.1901C= ENSP00000507213.1:p.Ser634=
ENST00000682395.1:n.2376C=
ENST00000682459.1:n.1615C=
ENST00000682467.1:c.1892-341C= ENSP00000508062.1:n.1892-341C=
ENST00000682615.1:n.266C=
ENST00000682795.1:c.2059C= ENSP00000507574.1:p.Arg687=
ENST00000682895.1:n.1628C=
ENST00000682955.1:n.1486C=
ENST00000683095.1:c.318C= ENSP00000508040.1:n.318C=
ENST00000683188.1:c.2173C=
ENST00000683380.1:n.1576C=
ENST00000683828.1:c.1621C=
ENST00000683907.1:c.177C= ENSP00000507754.1:p.Phe59=
ENST00000684172.1:c.288C= ENSP00000508391.1:n.288C=
ENST00000684259.1:n.3679C=
ENST00000684538.1:n.1291C=
ENST00000684549.1:n.1463C=
ENST00000261534.9:c.1912C= MANE Select ENSP00000261534.4:p.Arg638=
ENST00000261534.8:c.1912C= ENSP00000261534.4:p.Arg638=
ENST00000452340.7:n.2888C=
ENST00000554767.5:n.2698C=
ENST00000555134.1:n.837C=
ENST00000555710.1:c.273C= ENSP00000451730.1:n.273C=
ENST00000556171.1:c.504C=
ENST00000556394.1:c.88-341C=
ENST00000556446.1:n.213C=
ENST00000602717.5:c.127C= ENSP00000487704.1:p.Arg43=
NM_013382.5:c.1912C= , LRG_844t1:c.1912C= NP_037514.2:p.Arg638=
XM_011536675.1:c.2101C= XP_011534977.1:p.Arg701=
XM_011536676.1:c.1768C= XP_011534978.1:p.Arg590=
XM_011536677.1:c.1642C= XP_011534979.1:p.Arg548=
XM_011536679.1:c.1195C= XP_011534981.1:p.Arg399=
XR_943416.1:n.2165C=
XM_011536675.2:c.2101C= XP_011534977.1:p.Arg701=
XM_011536676.2:c.1768C= XP_011534978.1:p.Arg590=
XM_011536677.3:c.1642C= XP_011534979.1:p.Arg548=
XR_001750279.1:n.2198C=
XR_001750282.1:n.2851C=
XR_943416.3:n.2163C=
NM_013382.6:c.1912C= NP_037514.2:p.Arg638=
NM_013382.7:c.1912C= MANE Select NP_037514.2:p.Arg638=