Canonical Allele Identifier: CA116095

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77277452C>T , CM000676.2:g.77277452C>T	GRCh38
NC_000014.8:g.77743795C>T , CM000676.1:g.77743795C>T	GRCh37
NC_000014.7:g.76813548C>T	NCBI36
NG_008897.1:g.48431G>A , LRG_844:g.48431G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_013382.7:c.2177G>A MANE Select	NP_037514.2:p.Gly726Glu
ENST00000261534.9:c.2177G>A MANE Select	ENSP00000261534.4:p.Gly726Glu
NM_013382.5:c.2177G>A , LRG_844t1:c.2177G>A	NP_037514.2:p.Gly726Glu
NM_013382.6:c.2177G>A	NP_037514.2:p.Gly726Glu
ENST00000261534.8:c.2177G>A	ENSP00000261534.4:p.Gly726Glu
ENST00000452340.7:n.3153G>A
ENST00000554767.5:n.2963G>A
ENST00000555134.2:n.1102G>A
ENST00000555710.1:c.538G>A	ENSP00000451730.1:n.538G>A
ENST00000556394.1:c.232G>A
ENST00000556394.2:c.1718G>A	ENSP00000451967.2:p.Gly573Glu
ENST00000602717.5:c.363-174G>A	ENSP00000487704.1:n.363-174G>A
ENST00000682247.1:c.2166G>A	ENSP00000507213.1:p.Arg722=
ENST00000682395.1:n.2641G>A
ENST00000682459.1:n.1880G>A
ENST00000682467.1:c.2036G>A	ENSP00000508062.1:p.Gly679Glu
ENST00000682795.1:c.2324G>A	ENSP00000507574.1:p.Gly775Glu
ENST00000682895.1:n.1893G>A
ENST00000682897.1:c.30G>A
ENST00000682955.1:n.1751G>A
ENST00000683188.1:c.2438G>A
ENST00000683380.1:n.1841G>A
ENST00000683784.1:c.30G>A
ENST00000684259.1:n.3944G>A
ENST00000684538.1:n.1556G>A
ENST00000684549.1:n.1728G>A
XM_011536675.1:c.2366G>A	XP_011534977.1:p.Gly789Glu
XM_011536675.2:c.2366G>A	XP_011534977.1:p.Gly789Glu
XM_011536676.1:c.2033G>A	XP_011534978.1:p.Gly678Glu
XM_011536676.2:c.2033G>A	XP_011534978.1:p.Gly678Glu
XM_011536677.1:c.1907G>A	XP_011534979.1:p.Gly636Glu
XM_011536677.3:c.1907G>A	XP_011534979.1:p.Gly636Glu
XM_011536679.1:c.1460G>A	XP_011534981.1:p.Gly487Glu
XR_001750279.1:n.2463G>A
XR_001750282.1:n.3116G>A
XR_943416.1:n.2430G>A
XR_943416.3:n.2428G>A