Canonical Allele Identifier: CA2148330116

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286770G= , CM000676.2:g.77286770G=	GRCh38
NC_000014.8:g.77753113G= , CM000676.1:g.77753113G=	GRCh37
NC_000014.7:g.76822866G=	NCBI36
NG_008897.1:g.39113C= , LRG_844:g.39113C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.847C=	ENSP00000451967.2:p.His283=
ENST00000682247.1:c.1306C=	ENSP00000507213.1:p.His436=
ENST00000682382.1:c.878C=
ENST00000682395.1:n.1484C=
ENST00000682459.1:n.1009C=
ENST00000682467.1:c.1306C=	ENSP00000508062.1:p.His436=
ENST00000682706.1:n.83C=
ENST00000682795.1:c.1306C=	ENSP00000507574.1:p.His436=
ENST00000682895.1:n.1022C=
ENST00000682955.1:n.594C=
ENST00000683188.1:c.1281C=
ENST00000683328.1:c.299C=	ENSP00000508096.1:n.299C=
ENST00000683380.1:n.970C=
ENST00000683828.1:c.1015C=
ENST00000684259.1:n.1157C=
ENST00000684444.1:c.53C=
ENST00000684549.1:n.857C=
ENST00000261534.9:c.1306C= MANE Select	ENSP00000261534.4:p.His436=
ENST00000261534.8:c.1306C=	ENSP00000261534.4:p.His436=
ENST00000452340.7:n.1329C=
ENST00000553880.5:n.177C=
ENST00000554767.5:n.2092C=
ENST00000554884.5:n.298C=
ENST00000556404.1:n.440C=
ENST00000556851.1:n.342C=
ENST00000557675.5:n.396C=
NM_013382.5:c.1306C= , LRG_844t1:c.1306C=	NP_037514.2:p.His436=
XM_011536675.1:c.1306C=	XP_011534977.1:p.His436=
XM_011536676.1:c.973C=	XP_011534978.1:p.His325=
XM_011536677.1:c.847C=	XP_011534979.1:p.His283=
XM_011536678.1:c.1306C=	XP_011534980.1:p.His436=
XM_011536679.1:c.400C=	XP_011534981.1:p.His134=
XR_943416.1:n.1509C=
XM_011536675.2:c.1306C=	XP_011534977.1:p.His436=
XM_011536676.2:c.973C=	XP_011534978.1:p.His325=
XM_011536677.3:c.847C=	XP_011534979.1:p.His283=
XR_001750279.1:n.1506C=
XR_001750282.1:n.1959C=
XR_943416.3:n.1507C=
NM_013382.6:c.1306C=	NP_037514.2:p.His436=
NM_013382.7:c.1306C= MANE Select	NP_037514.2:p.His436=