Canonical Allele Identifier: CA2148330085

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286762C= , CM000676.2:g.77286762C=	GRCh38
NC_000014.8:g.77753105C= , CM000676.1:g.77753105C=	GRCh37
NC_000014.7:g.76822858C=	NCBI36
NG_008897.1:g.39121G= , LRG_844:g.39121G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.855G=	ENSP00000451967.2:p.Gln285=
ENST00000682247.1:c.1314G=	ENSP00000507213.1:p.Gln438=
ENST00000682382.1:c.886G=
ENST00000682395.1:n.1492G=
ENST00000682459.1:n.1017G=
ENST00000682467.1:c.1314G=	ENSP00000508062.1:p.Gln438=
ENST00000682706.1:n.91G=
ENST00000682795.1:c.1314G=	ENSP00000507574.1:p.Gln438=
ENST00000682895.1:n.1030G=
ENST00000682955.1:n.602G=
ENST00000683188.1:c.1289G=
ENST00000683328.1:c.307G=	ENSP00000508096.1:n.307G=
ENST00000683380.1:n.978G=
ENST00000683828.1:c.1023G=
ENST00000684259.1:n.1165G=
ENST00000684444.1:c.61G=
ENST00000684549.1:n.865G=
ENST00000261534.9:c.1314G= MANE Select	ENSP00000261534.4:p.Gln438=
ENST00000261534.8:c.1314G=	ENSP00000261534.4:p.Gln438=
ENST00000452340.7:n.1337G=
ENST00000553880.5:n.185G=
ENST00000554767.5:n.2100G=
ENST00000554884.5:n.306G=
ENST00000556404.1:n.448G=
ENST00000556851.1:n.350G=
ENST00000557675.5:n.404G=
NM_013382.5:c.1314G= , LRG_844t1:c.1314G=	NP_037514.2:p.Gln438=
XM_011536675.1:c.1314G=	XP_011534977.1:p.Gln438=
XM_011536676.1:c.981G=	XP_011534978.1:p.Gln327=
XM_011536677.1:c.855G=	XP_011534979.1:p.Gln285=
XM_011536678.1:c.1314G=	XP_011534980.1:p.Gln438=
XM_011536679.1:c.408G=	XP_011534981.1:p.Gln136=
XR_943416.1:n.1517G=
XM_011536675.2:c.1314G=	XP_011534977.1:p.Gln438=
XM_011536676.2:c.981G=	XP_011534978.1:p.Gln327=
XM_011536677.3:c.855G=	XP_011534979.1:p.Gln285=
XR_001750279.1:n.1514G=
XR_001750282.1:n.1967G=
XR_943416.3:n.1515G=
NM_013382.6:c.1314G=	NP_037514.2:p.Gln438=
NM_013382.7:c.1314G= MANE Select	NP_037514.2:p.Gln438=