Canonical Allele Identifier: CA2148328896

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306363G= , CM000676.2:g.77306363G=	GRCh38
NC_000014.8:g.77772706G= , CM000676.1:g.77772706G=	GRCh37
NC_000014.7:g.76842459G=	NCBI36
NG_008897.1:g.19520C= , LRG_844:g.19520C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.141C=
ENST00000556394.2:c.249-1563C=	ENSP00000451967.2:n.249-1563C=
ENST00000556880.6:n.345C=
ENST00000682247.1:c.412C=	ENSP00000507213.1:p.His138=
ENST00000682382.1:c.360C=
ENST00000682395.1:n.141C=
ENST00000682459.1:n.102+39C=
ENST00000682467.1:c.412C=	ENSP00000508062.1:p.His138=
ENST00000682795.1:c.412C=	ENSP00000507574.1:p.His138=
ENST00000682895.1:n.128C=
ENST00000682955.1:n.102+39C=
ENST00000683188.1:c.207C=
ENST00000683380.1:n.102+39C=
ENST00000683828.1:c.281C=
ENST00000684066.1:n.107C=
ENST00000684102.1:n.158C=
ENST00000684259.1:n.263C=
ENST00000684479.1:n.79C=
ENST00000684549.1:n.141C=
ENST00000684600.1:c.226C=
ENST00000684670.1:n.79C=
ENST00000684746.1:n.109C=
ENST00000261534.9:c.412C= MANE Select	ENSP00000261534.4:p.His138=
ENST00000261534.8:c.412C=	ENSP00000261534.4:p.His138=
ENST00000452340.7:n.435C=
ENST00000553863.5:n.102+39C=
ENST00000554948.1:c.139C=	ENSP00000452060.1:p.His47=
ENST00000555675.5:n.128C=
ENST00000555788.5:n.246C=
ENST00000556326.5:c.*78C=	ENSP00000450630.1:n.*78C=
ENST00000556880.5:n.345C=
ENST00000557525.1:n.502C=
NM_013382.5:c.412C= , LRG_844t1:c.412C=	NP_037514.2:p.His138=
XM_011536675.1:c.412C=	XP_011534977.1:p.His138=
XM_011536676.1:c.79C=	XP_011534978.1:p.His27=
XM_011536677.1:c.412C=	XP_011534979.1:p.His138=
XM_011536678.1:c.412C=	XP_011534980.1:p.His138=
XM_011536680.1:c.412C=	XP_011534982.1:p.His138=
XR_943416.1:n.615C=
XM_011536675.2:c.412C=	XP_011534977.1:p.His138=
XM_011536676.2:c.79C=	XP_011534978.1:p.His27=
XM_011536677.3:c.412C=	XP_011534979.1:p.His138=
XR_001750279.1:n.612C=
XR_001750282.1:n.616C=
XR_943416.3:n.613C=
NM_013382.6:c.412C=	NP_037514.2:p.His138=
NM_013382.7:c.412C= MANE Select	NP_037514.2:p.His138=