Canonical Allele Identifier: CA2148315377

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278784C= , CM000676.2:g.77278784C=	GRCh38
NC_000014.8:g.77745127C= , CM000676.1:g.77745127C=	GRCh37
NC_000014.7:g.76814880C=	NCBI36
NG_008897.1:g.47099G= , LRG_844:g.47099G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.902G=
ENST00000556394.2:c.1518G=	ENSP00000451967.2:p.Arg506=
ENST00000682128.1:c.278G=	ENSP00000506976.1:n.278G=
ENST00000682247.1:c.1966G=	ENSP00000507213.1:p.Gly656=
ENST00000682395.1:n.2441G=
ENST00000682459.1:n.1680G=
ENST00000682467.1:c.1892-276G=	ENSP00000508062.1:n.1892-276G=
ENST00000682615.1:n.331G=
ENST00000682795.1:c.2124G=	ENSP00000507574.1:p.Arg708=
ENST00000682895.1:n.1693G=
ENST00000682955.1:n.1551G=
ENST00000683095.1:c.383G=	ENSP00000508040.1:n.383G=
ENST00000683188.1:c.2238G=
ENST00000683380.1:n.1641G=
ENST00000683828.1:c.1686G=
ENST00000683907.1:c.242G=	ENSP00000507754.1:n.242G=
ENST00000684172.1:c.353G=	ENSP00000508391.1:n.353G=
ENST00000684259.1:n.3744G=
ENST00000684538.1:n.1356G=
ENST00000684549.1:n.1528G=
ENST00000261534.9:c.1977G= MANE Select	ENSP00000261534.4:p.Arg659=
ENST00000261534.8:c.1977G=	ENSP00000261534.4:p.Arg659=
ENST00000452340.7:n.2953G=
ENST00000554767.5:n.2763G=
ENST00000555710.1:c.338G=	ENSP00000451730.1:n.338G=
ENST00000556171.1:c.569G=
ENST00000556394.1:c.88-276G=
ENST00000556446.1:n.278G=
ENST00000602717.5:c.192G=	ENSP00000487704.1:p.Arg64=
NM_013382.5:c.1977G= , LRG_844t1:c.1977G=	NP_037514.2:p.Arg659=
XM_011536675.1:c.2166G=	XP_011534977.1:p.Arg722=
XM_011536676.1:c.1833G=	XP_011534978.1:p.Arg611=
XM_011536677.1:c.1707G=	XP_011534979.1:p.Arg569=
XM_011536679.1:c.1260G=	XP_011534981.1:p.Arg420=
XR_943416.1:n.2230G=
XM_011536675.2:c.2166G=	XP_011534977.1:p.Arg722=
XM_011536676.2:c.1833G=	XP_011534978.1:p.Arg611=
XM_011536677.3:c.1707G=	XP_011534979.1:p.Arg569=
XR_001750279.1:n.2263G=
XR_001750282.1:n.2916G=
XR_943416.3:n.2228G=
NM_013382.6:c.1977G=	NP_037514.2:p.Arg659=
NM_013382.7:c.1977G= MANE Select	NP_037514.2:p.Arg659=