Canonical Allele Identifier: CA2148330126

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286775C= , CM000676.2:g.77286775C=	GRCh38
NC_000014.8:g.77753118C= , CM000676.1:g.77753118C=	GRCh37
NC_000014.7:g.76822871C=	NCBI36
NG_008897.1:g.39108G= , LRG_844:g.39108G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.842G=	ENSP00000451967.2:p.Arg281=
ENST00000682247.1:c.1301G=	ENSP00000507213.1:p.Arg434=
ENST00000682382.1:c.873G=
ENST00000682395.1:n.1479G=
ENST00000682459.1:n.1004G=
ENST00000682467.1:c.1301G=	ENSP00000508062.1:p.Arg434=
ENST00000682706.1:n.78G=
ENST00000682795.1:c.1301G=	ENSP00000507574.1:p.Arg434=
ENST00000682895.1:n.1017G=
ENST00000682955.1:n.589G=
ENST00000683188.1:c.1276G=
ENST00000683328.1:c.294G=	ENSP00000508096.1:n.294G=
ENST00000683380.1:n.965G=
ENST00000683828.1:c.1010G=
ENST00000684259.1:n.1152G=
ENST00000684444.1:c.48G=
ENST00000684549.1:n.852G=
ENST00000261534.9:c.1301G= MANE Select	ENSP00000261534.4:p.Arg434=
ENST00000261534.8:c.1301G=	ENSP00000261534.4:p.Arg434=
ENST00000452340.7:n.1324G=
ENST00000553880.5:n.172G=
ENST00000554767.5:n.2087G=
ENST00000554884.5:n.293G=
ENST00000556404.1:n.435G=
ENST00000556851.1:n.337G=
ENST00000557675.5:n.391G=
NM_013382.5:c.1301G= , LRG_844t1:c.1301G=	NP_037514.2:p.Arg434=
XM_011536675.1:c.1301G=	XP_011534977.1:p.Arg434=
XM_011536676.1:c.968G=	XP_011534978.1:p.Arg323=
XM_011536677.1:c.842G=	XP_011534979.1:p.Arg281=
XM_011536678.1:c.1301G=	XP_011534980.1:p.Arg434=
XM_011536679.1:c.395G=	XP_011534981.1:p.Arg132=
XR_943416.1:n.1504G=
XM_011536675.2:c.1301G=	XP_011534977.1:p.Arg434=
XM_011536676.2:c.968G=	XP_011534978.1:p.Arg323=
XM_011536677.3:c.842G=	XP_011534979.1:p.Arg281=
XR_001750279.1:n.1501G=
XR_001750282.1:n.1954G=
XR_943416.3:n.1502G=
NM_013382.6:c.1301G=	NP_037514.2:p.Arg434=
NM_013382.7:c.1301G= MANE Select	NP_037514.2:p.Arg434=