Canonical Allele Identifier: CA2148340658

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77298695G= , CM000676.2:g.77298695G=	GRCh38
NC_000014.8:g.77765038G= , CM000676.1:g.77765038G=	GRCh37
NC_000014.7:g.76834791G=	NCBI36
NG_008897.1:g.27188C= , LRG_844:g.27188C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.541C=	ENSP00000451967.2:p.Pro181=
ENST00000557289.2:c.298C=
ENST00000682247.1:c.1000C=	ENSP00000507213.1:p.Pro334=
ENST00000682382.1:c.572C=
ENST00000682395.1:n.729C=
ENST00000682459.1:n.664C=
ENST00000682467.1:c.1000C=	ENSP00000508062.1:p.Pro334=
ENST00000682795.1:c.1000C=	ENSP00000507574.1:p.Pro334=
ENST00000682895.1:n.716C=
ENST00000682955.1:n.288C=
ENST00000683188.1:c.526C=
ENST00000683300.1:c.110-2422C=	ENSP00000507630.1:n.110-2422C=
ENST00000683328.1:c.109+5997C=	ENSP00000508096.1:n.109+5997C=
ENST00000683380.1:n.664C=
ENST00000683551.1:c.186C=
ENST00000683828.1:c.709C=
ENST00000684259.1:n.851C=
ENST00000684549.1:n.551C=
ENST00000684554.1:c.237C=
ENST00000261534.9:c.1000C= MANE Select	ENSP00000261534.4:p.Pro334=
ENST00000261534.8:c.1000C=	ENSP00000261534.4:p.Pro334=
ENST00000452340.7:n.1023C=
ENST00000554767.5:n.1786C=
ENST00000557289.1:c.239C=	ENSP00000451115.1:n.239C=
NM_013382.5:c.1000C= , LRG_844t1:c.1000C=	NP_037514.2:p.Pro334=
XM_011536675.1:c.1000C=	XP_011534977.1:p.Pro334=
XM_011536676.1:c.667C=	XP_011534978.1:p.Pro223=
XM_011536677.1:c.548-2422C=	XP_011534979.1:n.548-2422C=
XM_011536678.1:c.1000C=	XP_011534980.1:p.Pro334=
XM_011536679.1:c.94C=	XP_011534981.1:p.Pro32=
XM_011536680.1:c.1000C=	XP_011534982.1:p.Pro334=
XR_943416.1:n.1203C=
XM_011536675.2:c.1000C=	XP_011534977.1:p.Pro334=
XM_011536676.2:c.667C=	XP_011534978.1:p.Pro223=
XM_011536677.3:c.548-2422C=	XP_011534979.1:n.548-2422C=
XR_001750279.1:n.1200C=
XR_001750282.1:n.1204C=
XR_943416.3:n.1201C=
NM_013382.6:c.1000C=	NP_037514.2:p.Pro334=
NM_013382.7:c.1000C= MANE Select	NP_037514.2:p.Pro334=