Canonical Allele Identifier: CA2148327494

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278491G= , CM000676.2:g.77278491G=	GRCh38
NC_000014.8:g.77744834G= , CM000676.1:g.77744834G=	GRCh37
NC_000014.7:g.76814587G=	NCBI36
NG_008897.1:g.47392C= , LRG_844:g.47392C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.975C=
ENST00000556394.2:c.1591C=	ENSP00000451967.2:p.Leu531=
ENST00000682247.1:c.2039C=	ENSP00000507213.1:p.Pro680=
ENST00000682395.1:n.2514C=
ENST00000682459.1:n.1753C=
ENST00000682467.1:c.1909C=	ENSP00000508062.1:p.Leu637=
ENST00000682795.1:c.2197C=	ENSP00000507574.1:p.Leu733=
ENST00000682895.1:n.1766C=
ENST00000682955.1:n.1624C=
ENST00000683188.1:c.2311C=
ENST00000683380.1:n.1714C=
ENST00000683907.1:c.315C=	ENSP00000507754.1:n.315C=
ENST00000684259.1:n.3817C=
ENST00000684538.1:n.1429C=
ENST00000684549.1:n.1601C=
ENST00000261534.9:c.2050C= MANE Select	ENSP00000261534.4:p.Leu684=
ENST00000261534.8:c.2050C=	ENSP00000261534.4:p.Leu684=
ENST00000452340.7:n.3026C=
ENST00000554767.5:n.2836C=
ENST00000555710.1:c.411C=	ENSP00000451730.1:n.411C=
ENST00000556394.1:c.105C=
ENST00000556446.1:n.351C=
ENST00000602717.5:c.265C=	ENSP00000487704.1:p.Leu89=
NM_013382.5:c.2050C= , LRG_844t1:c.2050C=	NP_037514.2:p.Leu684=
XM_011536675.1:c.2239C=	XP_011534977.1:p.Leu747=
XM_011536676.1:c.1906C=	XP_011534978.1:p.Leu636=
XM_011536677.1:c.1780C=	XP_011534979.1:p.Leu594=
XM_011536679.1:c.1333C=	XP_011534981.1:p.Leu445=
XR_943416.1:n.2303C=
XM_011536675.2:c.2239C=	XP_011534977.1:p.Leu747=
XM_011536676.2:c.1906C=	XP_011534978.1:p.Leu636=
XM_011536677.3:c.1780C=	XP_011534979.1:p.Leu594=
XR_001750279.1:n.2336C=
XR_001750282.1:n.2989C=
XR_943416.3:n.2301C=
NM_013382.6:c.2050C=	NP_037514.2:p.Leu684=
NM_013382.7:c.2050C= MANE Select	NP_037514.2:p.Leu684=