Canonical Allele Identifier: CA2148315326

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278757T= , CM000676.2:g.77278757T=	GRCh38
NC_000014.8:g.77745100T= , CM000676.1:g.77745100T=	GRCh37
NC_000014.7:g.76814853T=	NCBI36
NG_008897.1:g.47126A= , LRG_844:g.47126A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.929A=
ENST00000556394.2:c.1545A=	ENSP00000451967.2:p.Pro515=
ENST00000682128.1:c.305A=	ENSP00000506976.1:n.305A=
ENST00000682247.1:c.1993A=	ENSP00000507213.1:p.Ser665=
ENST00000682395.1:n.2468A=
ENST00000682459.1:n.1707A=
ENST00000682467.1:c.1892-249A=	ENSP00000508062.1:n.1892-249A=
ENST00000682615.1:n.358A=
ENST00000682795.1:c.2151A=	ENSP00000507574.1:p.Pro717=
ENST00000682895.1:n.1720A=
ENST00000682955.1:n.1578A=
ENST00000683095.1:c.410A=	ENSP00000508040.1:n.410A=
ENST00000683188.1:c.2265A=
ENST00000683380.1:n.1668A=
ENST00000683907.1:c.269A=	ENSP00000507754.1:n.269A=
ENST00000684172.1:c.380A=	ENSP00000508391.1:n.380A=
ENST00000684259.1:n.3771A=
ENST00000684538.1:n.1383A=
ENST00000684549.1:n.1555A=
ENST00000261534.9:c.2004A= MANE Select	ENSP00000261534.4:p.Pro668=
ENST00000261534.8:c.2004A=	ENSP00000261534.4:p.Pro668=
ENST00000452340.7:n.2980A=
ENST00000554767.5:n.2790A=
ENST00000555710.1:c.365A=	ENSP00000451730.1:n.365A=
ENST00000556394.1:c.88-249A=
ENST00000556446.1:n.305A=
ENST00000602717.5:c.219A=	ENSP00000487704.1:p.Pro73=
NM_013382.5:c.2004A= , LRG_844t1:c.2004A=	NP_037514.2:p.Pro668=
XM_011536675.1:c.2193A=	XP_011534977.1:p.Pro731=
XM_011536676.1:c.1860A=	XP_011534978.1:p.Pro620=
XM_011536677.1:c.1734A=	XP_011534979.1:p.Pro578=
XM_011536679.1:c.1287A=	XP_011534981.1:p.Pro429=
XR_943416.1:n.2257A=
XM_011536675.2:c.2193A=	XP_011534977.1:p.Pro731=
XM_011536676.2:c.1860A=	XP_011534978.1:p.Pro620=
XM_011536677.3:c.1734A=	XP_011534979.1:p.Pro578=
XR_001750279.1:n.2290A=
XR_001750282.1:n.2943A=
XR_943416.3:n.2255A=
NM_013382.6:c.2004A=	NP_037514.2:p.Pro668=
NM_013382.7:c.2004A= MANE Select	NP_037514.2:p.Pro668=