Canonical Allele Identifier: CA2148327495

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278492G= , CM000676.2:g.77278492G=	GRCh38
NC_000014.8:g.77744835G= , CM000676.1:g.77744835G=	GRCh37
NC_000014.7:g.76814588G=	NCBI36
NG_008897.1:g.47391C= , LRG_844:g.47391C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.974C=
ENST00000556394.2:c.1590C=	ENSP00000451967.2:p.Thr530=
ENST00000682247.1:c.2038C=	ENSP00000507213.1:p.Pro680=
ENST00000682395.1:n.2513C=
ENST00000682459.1:n.1752C=
ENST00000682467.1:c.1908C=	ENSP00000508062.1:p.Thr636=
ENST00000682795.1:c.2196C=	ENSP00000507574.1:p.Thr732=
ENST00000682895.1:n.1765C=
ENST00000682955.1:n.1623C=
ENST00000683188.1:c.2310C=
ENST00000683380.1:n.1713C=
ENST00000683907.1:c.314C=	ENSP00000507754.1:n.314C=
ENST00000684259.1:n.3816C=
ENST00000684538.1:n.1428C=
ENST00000684549.1:n.1600C=
ENST00000261534.9:c.2049C= MANE Select	ENSP00000261534.4:p.Thr683=
ENST00000261534.8:c.2049C=	ENSP00000261534.4:p.Thr683=
ENST00000452340.7:n.3025C=
ENST00000554767.5:n.2835C=
ENST00000555710.1:c.410C=	ENSP00000451730.1:n.410C=
ENST00000556394.1:c.104C=
ENST00000556446.1:n.350C=
ENST00000602717.5:c.264C=	ENSP00000487704.1:p.Thr88=
NM_013382.5:c.2049C= , LRG_844t1:c.2049C=	NP_037514.2:p.Thr683=
XM_011536675.1:c.2238C=	XP_011534977.1:p.Thr746=
XM_011536676.1:c.1905C=	XP_011534978.1:p.Thr635=
XM_011536677.1:c.1779C=	XP_011534979.1:p.Thr593=
XM_011536679.1:c.1332C=	XP_011534981.1:p.Thr444=
XR_943416.1:n.2302C=
XM_011536675.2:c.2238C=	XP_011534977.1:p.Thr746=
XM_011536676.2:c.1905C=	XP_011534978.1:p.Thr635=
XM_011536677.3:c.1779C=	XP_011534979.1:p.Thr593=
XR_001750279.1:n.2335C=
XR_001750282.1:n.2988C=
XR_943416.3:n.2300C=
NM_013382.6:c.2049C=	NP_037514.2:p.Thr683=
NM_013382.7:c.2049C= MANE Select	NP_037514.2:p.Thr683=