Canonical Allele Identifier: CA2148315304

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278748G= , CM000676.2:g.77278748G=	GRCh38
NC_000014.8:g.77745091G= , CM000676.1:g.77745091G=	GRCh37
NC_000014.7:g.76814844G=	NCBI36
NG_008897.1:g.47135C= , LRG_844:g.47135C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.938C=
ENST00000556394.2:c.1554C=	ENSP00000451967.2:p.Leu518=
ENST00000682128.1:c.314C=	ENSP00000506976.1:n.314C=
ENST00000682247.1:c.2002C=	ENSP00000507213.1:p.Leu668=
ENST00000682395.1:n.2477C=
ENST00000682459.1:n.1716C=
ENST00000682467.1:c.1892-240C=	ENSP00000508062.1:n.1892-240C=
ENST00000682615.1:n.367C=
ENST00000682795.1:c.2160C=	ENSP00000507574.1:p.Leu720=
ENST00000682895.1:n.1729C=
ENST00000682955.1:n.1587C=
ENST00000683095.1:c.419C=	ENSP00000508040.1:n.419C=
ENST00000683188.1:c.2274C=
ENST00000683380.1:n.1677C=
ENST00000683907.1:c.278C=	ENSP00000507754.1:n.278C=
ENST00000684172.1:c.389C=	ENSP00000508391.1:n.389C=
ENST00000684259.1:n.3780C=
ENST00000684538.1:n.1392C=
ENST00000684549.1:n.1564C=
ENST00000261534.9:c.2013C= MANE Select	ENSP00000261534.4:p.Leu671=
ENST00000261534.8:c.2013C=	ENSP00000261534.4:p.Leu671=
ENST00000452340.7:n.2989C=
ENST00000554767.5:n.2799C=
ENST00000555710.1:c.374C=	ENSP00000451730.1:n.374C=
ENST00000556394.1:c.88-240C=
ENST00000556446.1:n.314C=
ENST00000602717.5:c.228C=	ENSP00000487704.1:p.Leu76=
NM_013382.5:c.2013C= , LRG_844t1:c.2013C=	NP_037514.2:p.Leu671=
XM_011536675.1:c.2202C=	XP_011534977.1:p.Leu734=
XM_011536676.1:c.1869C=	XP_011534978.1:p.Leu623=
XM_011536677.1:c.1743C=	XP_011534979.1:p.Leu581=
XM_011536679.1:c.1296C=	XP_011534981.1:p.Leu432=
XR_943416.1:n.2266C=
XM_011536675.2:c.2202C=	XP_011534977.1:p.Leu734=
XM_011536676.2:c.1869C=	XP_011534978.1:p.Leu623=
XM_011536677.3:c.1743C=	XP_011534979.1:p.Leu581=
XR_001750279.1:n.2299C=
XR_001750282.1:n.2952C=
XR_943416.3:n.2264C=
NM_013382.6:c.2013C=	NP_037514.2:p.Leu671=
NM_013382.7:c.2013C= MANE Select	NP_037514.2:p.Leu671=