Canonical Allele Identifier: CA2148327503

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278507G= , CM000676.2:g.77278507G=	GRCh38
NC_000014.8:g.77744850G= , CM000676.1:g.77744850G=	GRCh37
NC_000014.7:g.76814603G=	NCBI36
NG_008897.1:g.47376C= , LRG_844:g.47376C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.959C=
ENST00000556394.2:c.1575C=	ENSP00000451967.2:p.Gly525=
ENST00000682247.1:c.2023C=	ENSP00000507213.1:p.His675=
ENST00000682395.1:n.2498C=
ENST00000682459.1:n.1737C=
ENST00000682467.1:c.1893C=	ENSP00000508062.1:p.Gly631=
ENST00000682795.1:c.2181C=	ENSP00000507574.1:p.Gly727=
ENST00000682895.1:n.1750C=
ENST00000682955.1:n.1608C=
ENST00000683188.1:c.2295C=
ENST00000683380.1:n.1698C=
ENST00000683907.1:c.299C=	ENSP00000507754.1:n.299C=
ENST00000684259.1:n.3801C=
ENST00000684538.1:n.1413C=
ENST00000684549.1:n.1585C=
ENST00000261534.9:c.2034C= MANE Select	ENSP00000261534.4:p.Gly678=
ENST00000261534.8:c.2034C=	ENSP00000261534.4:p.Gly678=
ENST00000452340.7:n.3010C=
ENST00000554767.5:n.2820C=
ENST00000555710.1:c.395C=	ENSP00000451730.1:n.395C=
ENST00000556394.1:c.89C=
ENST00000556446.1:n.335C=
ENST00000602717.5:c.249C=	ENSP00000487704.1:p.Gly83=
NM_013382.5:c.2034C= , LRG_844t1:c.2034C=	NP_037514.2:p.Gly678=
XM_011536675.1:c.2223C=	XP_011534977.1:p.Gly741=
XM_011536676.1:c.1890C=	XP_011534978.1:p.Gly630=
XM_011536677.1:c.1764C=	XP_011534979.1:p.Gly588=
XM_011536679.1:c.1317C=	XP_011534981.1:p.Gly439=
XR_943416.1:n.2287C=
XM_011536675.2:c.2223C=	XP_011534977.1:p.Gly741=
XM_011536676.2:c.1890C=	XP_011534978.1:p.Gly630=
XM_011536677.3:c.1764C=	XP_011534979.1:p.Gly588=
XR_001750279.1:n.2320C=
XR_001750282.1:n.2973C=
XR_943416.3:n.2285C=
NM_013382.6:c.2034C=	NP_037514.2:p.Gly678=
NM_013382.7:c.2034C= MANE Select	NP_037514.2:p.Gly678=