Canonical Allele Identifier: CA2148315402

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278796G= , CM000676.2:g.77278796G=	GRCh38
NC_000014.8:g.77745139G= , CM000676.1:g.77745139G=	GRCh37
NC_000014.7:g.76814892G=	NCBI36
NG_008897.1:g.47087C= , LRG_844:g.47087C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.890C=
ENST00000556394.2:c.1506C=	ENSP00000451967.2:p.Phe502=
ENST00000682128.1:c.266C=	ENSP00000506976.1:n.266C=
ENST00000682247.1:c.1954C=	ENSP00000507213.1:p.Pro652=
ENST00000682395.1:n.2429C=
ENST00000682459.1:n.1668C=
ENST00000682467.1:c.1892-288C=	ENSP00000508062.1:n.1892-288C=
ENST00000682615.1:n.319C=
ENST00000682795.1:c.2112C=	ENSP00000507574.1:p.Phe704=
ENST00000682895.1:n.1681C=
ENST00000682955.1:n.1539C=
ENST00000683095.1:c.371C=	ENSP00000508040.1:n.371C=
ENST00000683188.1:c.2226C=
ENST00000683380.1:n.1629C=
ENST00000683828.1:c.1674C=
ENST00000683907.1:c.230C=	ENSP00000507754.1:p.Ser77=
ENST00000684172.1:c.341C=	ENSP00000508391.1:n.341C=
ENST00000684259.1:n.3732C=
ENST00000684538.1:n.1344C=
ENST00000684549.1:n.1516C=
ENST00000261534.9:c.1965C= MANE Select	ENSP00000261534.4:p.Phe655=
ENST00000261534.8:c.1965C=	ENSP00000261534.4:p.Phe655=
ENST00000452340.7:n.2941C=
ENST00000554767.5:n.2751C=
ENST00000555710.1:c.326C=	ENSP00000451730.1:n.326C=
ENST00000556171.1:c.557C=
ENST00000556394.1:c.88-288C=
ENST00000556446.1:n.266C=
ENST00000602717.5:c.180C=	ENSP00000487704.1:p.Phe60=
NM_013382.5:c.1965C= , LRG_844t1:c.1965C=	NP_037514.2:p.Phe655=
XM_011536675.1:c.2154C=	XP_011534977.1:p.Phe718=
XM_011536676.1:c.1821C=	XP_011534978.1:p.Phe607=
XM_011536677.1:c.1695C=	XP_011534979.1:p.Phe565=
XM_011536679.1:c.1248C=	XP_011534981.1:p.Phe416=
XR_943416.1:n.2218C=
XM_011536675.2:c.2154C=	XP_011534977.1:p.Phe718=
XM_011536676.2:c.1821C=	XP_011534978.1:p.Phe607=
XM_011536677.3:c.1695C=	XP_011534979.1:p.Phe565=
XR_001750279.1:n.2251C=
XR_001750282.1:n.2904C=
XR_943416.3:n.2216C=
NM_013382.6:c.1965C=	NP_037514.2:p.Phe655=
NM_013382.7:c.1965C= MANE Select	NP_037514.2:p.Phe655=