Canonical Allele Identifier: CA2148330136

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286778G= , CM000676.2:g.77286778G=	GRCh38
NC_000014.8:g.77753121G= , CM000676.1:g.77753121G=	GRCh37
NC_000014.7:g.76822874G=	NCBI36
NG_008897.1:g.39105C= , LRG_844:g.39105C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.839C=	ENSP00000451967.2:p.Thr280=
ENST00000682247.1:c.1298C=	ENSP00000507213.1:p.Thr433=
ENST00000682382.1:c.870C=
ENST00000682395.1:n.1476C=
ENST00000682459.1:n.1001C=
ENST00000682467.1:c.1298C=	ENSP00000508062.1:p.Thr433=
ENST00000682706.1:n.75C=
ENST00000682795.1:c.1298C=	ENSP00000507574.1:p.Thr433=
ENST00000682895.1:n.1014C=
ENST00000682955.1:n.586C=
ENST00000683188.1:c.1273C=
ENST00000683328.1:c.291C=	ENSP00000508096.1:n.291C=
ENST00000683380.1:n.962C=
ENST00000683828.1:c.1007C=
ENST00000684259.1:n.1149C=
ENST00000684444.1:c.45C=
ENST00000684549.1:n.849C=
ENST00000261534.9:c.1298C= MANE Select	ENSP00000261534.4:p.Thr433=
ENST00000261534.8:c.1298C=	ENSP00000261534.4:p.Thr433=
ENST00000452340.7:n.1321C=
ENST00000553880.5:n.169C=
ENST00000554767.5:n.2084C=
ENST00000554884.5:n.290C=
ENST00000556404.1:n.432C=
ENST00000556851.1:n.334C=
ENST00000557675.5:n.388C=
NM_013382.5:c.1298C= , LRG_844t1:c.1298C=	NP_037514.2:p.Thr433=
XM_011536675.1:c.1298C=	XP_011534977.1:p.Thr433=
XM_011536676.1:c.965C=	XP_011534978.1:p.Thr322=
XM_011536677.1:c.839C=	XP_011534979.1:p.Thr280=
XM_011536678.1:c.1298C=	XP_011534980.1:p.Thr433=
XM_011536679.1:c.392C=	XP_011534981.1:p.Thr131=
XR_943416.1:n.1501C=
XM_011536675.2:c.1298C=	XP_011534977.1:p.Thr433=
XM_011536676.2:c.965C=	XP_011534978.1:p.Thr322=
XM_011536677.3:c.839C=	XP_011534979.1:p.Thr280=
XR_001750279.1:n.1498C=
XR_001750282.1:n.1951C=
XR_943416.3:n.1499C=
NM_013382.6:c.1298C=	NP_037514.2:p.Thr433=
NM_013382.7:c.1298C= MANE Select	NP_037514.2:p.Thr433=