Canonical Allele Identifier: CA2148330163

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286798G= , CM000676.2:g.77286798G=	GRCh38
NC_000014.8:g.77753141G= , CM000676.1:g.77753141G=	GRCh37
NC_000014.7:g.76822894G=	NCBI36
NG_008897.1:g.39085C= , LRG_844:g.39085C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.819C=	ENSP00000451967.2:p.His273=
ENST00000682247.1:c.1278C=	ENSP00000507213.1:p.His426=
ENST00000682382.1:c.850C=
ENST00000682395.1:n.1456C=
ENST00000682459.1:n.981C=
ENST00000682467.1:c.1278C=	ENSP00000508062.1:p.His426=
ENST00000682706.1:n.55C=
ENST00000682795.1:c.1278C=	ENSP00000507574.1:p.His426=
ENST00000682895.1:n.994C=
ENST00000682955.1:n.566C=
ENST00000683188.1:c.1253C=
ENST00000683328.1:c.271C=	ENSP00000508096.1:n.271C=
ENST00000683380.1:n.942C=
ENST00000683828.1:c.987C=
ENST00000684259.1:n.1129C=
ENST00000684444.1:c.25C=
ENST00000684549.1:n.829C=
ENST00000261534.9:c.1278C= MANE Select	ENSP00000261534.4:p.His426=
ENST00000261534.8:c.1278C=	ENSP00000261534.4:p.His426=
ENST00000452340.7:n.1301C=
ENST00000553880.5:n.149C=
ENST00000554767.5:n.2064C=
ENST00000554884.5:n.270C=
ENST00000556404.1:n.412C=
ENST00000556851.1:n.314C=
ENST00000557675.5:n.368C=
NM_013382.5:c.1278C= , LRG_844t1:c.1278C=	NP_037514.2:p.His426=
XM_011536675.1:c.1278C=	XP_011534977.1:p.His426=
XM_011536676.1:c.945C=	XP_011534978.1:p.His315=
XM_011536677.1:c.819C=	XP_011534979.1:p.His273=
XM_011536678.1:c.1278C=	XP_011534980.1:p.His426=
XM_011536679.1:c.372C=	XP_011534981.1:p.His124=
XR_943416.1:n.1481C=
XM_011536675.2:c.1278C=	XP_011534977.1:p.His426=
XM_011536676.2:c.945C=	XP_011534978.1:p.His315=
XM_011536677.3:c.819C=	XP_011534979.1:p.His273=
XR_001750279.1:n.1478C=
XR_001750282.1:n.1931C=
XR_943416.3:n.1479C=
NM_013382.6:c.1278C=	NP_037514.2:p.His426=
NM_013382.7:c.1278C= MANE Select	NP_037514.2:p.His426=