Canonical Allele Identifier: CA2148315444

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278812T= , CM000676.2:g.77278812T=	GRCh38
NC_000014.8:g.77745155T= , CM000676.1:g.77745155T=	GRCh37
NC_000014.7:g.76814908T=	NCBI36
NG_008897.1:g.47071A= , LRG_844:g.47071A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.874A=
ENST00000556394.2:c.1490A=	ENSP00000451967.2:p.His497=
ENST00000682128.1:c.250A=	ENSP00000506976.1:n.250A=
ENST00000682247.1:c.1938A=	ENSP00000507213.1:p.Pro646=
ENST00000682395.1:n.2413A=
ENST00000682459.1:n.1652A=
ENST00000682467.1:c.1892-304A=	ENSP00000508062.1:n.1892-304A=
ENST00000682615.1:n.303A=
ENST00000682795.1:c.2096A=	ENSP00000507574.1:p.His699=
ENST00000682895.1:n.1665A=
ENST00000682955.1:n.1523A=
ENST00000683095.1:c.355A=	ENSP00000508040.1:n.355A=
ENST00000683188.1:c.2210A=
ENST00000683380.1:n.1613A=
ENST00000683828.1:c.1658A=
ENST00000683907.1:c.214A=	ENSP00000507754.1:p.Ile72=
ENST00000684172.1:c.325A=	ENSP00000508391.1:n.325A=
ENST00000684259.1:n.3716A=
ENST00000684538.1:n.1328A=
ENST00000684549.1:n.1500A=
ENST00000261534.9:c.1949A= MANE Select	ENSP00000261534.4:p.His650=
ENST00000261534.8:c.1949A=	ENSP00000261534.4:p.His650=
ENST00000452340.7:n.2925A=
ENST00000554767.5:n.2735A=
ENST00000555710.1:c.310A=	ENSP00000451730.1:n.310A=
ENST00000556171.1:c.541A=
ENST00000556394.1:c.88-304A=
ENST00000556446.1:n.250A=
ENST00000602717.5:c.164A=	ENSP00000487704.1:p.His55=
NM_013382.5:c.1949A= , LRG_844t1:c.1949A=	NP_037514.2:p.His650=
XM_011536675.1:c.2138A=	XP_011534977.1:p.His713=
XM_011536676.1:c.1805A=	XP_011534978.1:p.His602=
XM_011536677.1:c.1679A=	XP_011534979.1:p.His560=
XM_011536679.1:c.1232A=	XP_011534981.1:p.His411=
XR_943416.1:n.2202A=
XM_011536675.2:c.2138A=	XP_011534977.1:p.His713=
XM_011536676.2:c.1805A=	XP_011534978.1:p.His602=
XM_011536677.3:c.1679A=	XP_011534979.1:p.His560=
XR_001750279.1:n.2235A=
XR_001750282.1:n.2888A=
XR_943416.3:n.2200A=
NM_013382.6:c.1949A=	NP_037514.2:p.His650=
NM_013382.7:c.1949A= MANE Select	NP_037514.2:p.His650=