Canonical Allele Identifier: CA2148329905

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286533G= , CM000676.2:g.77286533G=	GRCh38
NC_000014.8:g.77752876G= , CM000676.1:g.77752876G=	GRCh37
NC_000014.7:g.76822629G=	NCBI36
NG_008897.1:g.39350C= , LRG_844:g.39350C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.873+211C=	ENSP00000451967.2:n.873+211C=
ENST00000682247.1:c.1332+211C=	ENSP00000507213.1:n.1332+211C=
ENST00000682382.1:c.904+211C=
ENST00000682395.1:n.1510+211C=
ENST00000682459.1:n.1035+211C=
ENST00000682467.1:c.1332+211C=	ENSP00000508062.1:n.1332+211C=
ENST00000682795.1:c.1332+211C=	ENSP00000507574.1:n.1332+211C=
ENST00000682895.1:n.1048+211C=
ENST00000682955.1:n.620+211C=
ENST00000683188.1:c.1307+211C=
ENST00000683380.1:n.996+211C=
ENST00000683828.1:c.1041+211C=
ENST00000684259.1:n.1183+211C=
ENST00000684444.1:c.83+207C=
ENST00000684549.1:n.883+211C=
ENST00000261534.9:c.1332+211C= MANE Select	ENSP00000261534.4:n.1332+211C=
ENST00000261534.8:c.1332+211C=	ENSP00000261534.4:n.1332+211C=
ENST00000452340.7:n.1355+211C=
ENST00000553880.5:n.203+211C=
ENST00000554767.5:n.2118+211C=
ENST00000554884.5:n.324+211C=
ENST00000556404.1:n.466+211C=
ENST00000557675.5:n.422+211C=
NM_013382.5:c.1332+211C= , LRG_844t1:c.1332+211C=	NP_037514.2:n.1332+211C=
XM_011536675.1:c.1332+211C=	XP_011534977.1:n.1332+211C=
XM_011536676.1:c.999+211C=	XP_011534978.1:n.999+211C=
XM_011536677.1:c.873+211C=	XP_011534979.1:n.873+211C=
XM_011536678.1:c.1332+211C=	XP_011534980.1:n.1332+211C=
XM_011536679.1:c.426+211C=	XP_011534981.1:n.426+211C=
XR_943416.1:n.1535+211C=
XM_011536675.2:c.1332+211C=	XP_011534977.1:n.1332+211C=
XM_011536676.2:c.999+211C=	XP_011534978.1:n.999+211C=
XM_011536677.3:c.873+211C=	XP_011534979.1:n.873+211C=
XR_001750279.1:n.1532+211C=
XR_001750282.1:n.1985+211C=
XR_943416.3:n.1533+211C=
NM_013382.6:c.1332+211C=	NP_037514.2:n.1332+211C=
NM_013382.7:c.1332+211C= MANE Select	NP_037514.2:n.1332+211C=