Canonical Allele Identifier: CA2148315361

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278778G= , CM000676.2:g.77278778G=	GRCh38
NC_000014.8:g.77745121G= , CM000676.1:g.77745121G=	GRCh37
NC_000014.7:g.76814874G=	NCBI36
NG_008897.1:g.47105C= , LRG_844:g.47105C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.908C=
ENST00000556394.2:c.1524C=	ENSP00000451967.2:p.Leu508=
ENST00000682128.1:c.284C=	ENSP00000506976.1:n.284C=
ENST00000682247.1:c.1972C=	ENSP00000507213.1:p.Leu658=
ENST00000682395.1:n.2447C=
ENST00000682459.1:n.1686C=
ENST00000682467.1:c.1892-270C=	ENSP00000508062.1:n.1892-270C=
ENST00000682615.1:n.337C=
ENST00000682795.1:c.2130C=	ENSP00000507574.1:p.Leu710=
ENST00000682895.1:n.1699C=
ENST00000682955.1:n.1557C=
ENST00000683095.1:c.389C=	ENSP00000508040.1:n.389C=
ENST00000683188.1:c.2244C=
ENST00000683380.1:n.1647C=
ENST00000683907.1:c.248C=	ENSP00000507754.1:n.248C=
ENST00000684172.1:c.359C=	ENSP00000508391.1:n.359C=
ENST00000684259.1:n.3750C=
ENST00000684538.1:n.1362C=
ENST00000684549.1:n.1534C=
ENST00000261534.9:c.1983C= MANE Select	ENSP00000261534.4:p.Leu661=
ENST00000261534.8:c.1983C=	ENSP00000261534.4:p.Leu661=
ENST00000452340.7:n.2959C=
ENST00000554767.5:n.2769C=
ENST00000555710.1:c.344C=	ENSP00000451730.1:n.344C=
ENST00000556171.1:c.575C=
ENST00000556394.1:c.88-270C=
ENST00000556446.1:n.284C=
ENST00000602717.5:c.198C=	ENSP00000487704.1:p.Leu66=
NM_013382.5:c.1983C= , LRG_844t1:c.1983C=	NP_037514.2:p.Leu661=
XM_011536675.1:c.2172C=	XP_011534977.1:p.Leu724=
XM_011536676.1:c.1839C=	XP_011534978.1:p.Leu613=
XM_011536677.1:c.1713C=	XP_011534979.1:p.Leu571=
XM_011536679.1:c.1266C=	XP_011534981.1:p.Leu422=
XR_943416.1:n.2236C=
XM_011536675.2:c.2172C=	XP_011534977.1:p.Leu724=
XM_011536676.2:c.1839C=	XP_011534978.1:p.Leu613=
XM_011536677.3:c.1713C=	XP_011534979.1:p.Leu571=
XR_001750279.1:n.2269C=
XR_001750282.1:n.2922C=
XR_943416.3:n.2234C=
NM_013382.6:c.1983C=	NP_037514.2:p.Leu661=
NM_013382.7:c.1983C= MANE Select	NP_037514.2:p.Leu661=