Canonical Allele Identifier: CA2148342295

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301092A= , CM000676.2:g.77301092A=	GRCh38
NC_000014.8:g.77767435A= , CM000676.1:g.77767435A=	GRCh37
NC_000014.7:g.76837188A=	NCBI36
NG_008897.1:g.24791T= , LRG_844:g.24791T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.267T=	ENSP00000508202.1:n.267T=
ENST00000556394.2:c.358-1531T=	ENSP00000451967.2:n.358-1531T=
ENST00000557289.2:c.158T=
ENST00000682247.1:c.814T=	ENSP00000507213.1:p.Leu272=
ENST00000682382.1:c.496-2321T=
ENST00000682395.1:n.543T=
ENST00000682459.1:n.478T=
ENST00000682467.1:c.814T=	ENSP00000508062.1:p.Leu272=
ENST00000682795.1:c.814T=	ENSP00000507574.1:p.Leu272=
ENST00000682895.1:n.530T=
ENST00000682955.1:n.212-2321T=
ENST00000683167.1:c.158T=
ENST00000683188.1:c.343-1531T=
ENST00000683300.1:c.109+3600T=	ENSP00000507630.1:n.109+3600T=
ENST00000683328.1:c.109+3600T=	ENSP00000508096.1:n.109+3600T=
ENST00000683380.1:n.478T=
ENST00000683398.1:c.158T=
ENST00000683551.1:c.109+1743T=
ENST00000683828.1:c.526-1531T=
ENST00000684259.1:n.665T=
ENST00000684549.1:n.368-1531T=
ENST00000684554.1:c.158T=
ENST00000261534.9:c.814T= MANE Select	ENSP00000261534.4:p.Leu272=
ENST00000261534.8:c.814T=	ENSP00000261534.4:p.Leu272=
ENST00000452340.7:n.837T=
ENST00000553863.5:n.478T=
ENST00000554767.5:n.72T=
ENST00000555675.5:n.530T=
ENST00000556326.5:c.*480T=	ENSP00000450630.1:n.*480T=
ENST00000557289.1:c.56-1531T=	ENSP00000451115.1:n.56-1531T=
NM_013382.5:c.814T= , LRG_844t1:c.814T=	NP_037514.2:p.Leu272=
XM_011536675.1:c.814T=	XP_011534977.1:p.Leu272=
XM_011536676.1:c.481T=	XP_011534978.1:p.Leu161=
XM_011536677.1:c.547+3600T=	XP_011534979.1:n.547+3600T=
XM_011536678.1:c.814T=	XP_011534980.1:p.Leu272=
XM_011536679.1:c.-90-1531T=	XP_011534981.1:n.-90-1531T=
XM_011536680.1:c.814T=	XP_011534982.1:p.Leu272=
XR_943416.1:n.1017T=
XM_011536675.2:c.814T=	XP_011534977.1:p.Leu272=
XM_011536676.2:c.481T=	XP_011534978.1:p.Leu161=
XM_011536677.3:c.547+3600T=	XP_011534979.1:n.547+3600T=
XR_001750279.1:n.1014T=
XR_001750282.1:n.1018T=
XR_943416.3:n.1015T=
NM_013382.6:c.814T=	NP_037514.2:p.Leu272=
NM_013382.7:c.814T= MANE Select	NP_037514.2:p.Leu272=