Canonical Allele Identifier: CA2148330130

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286776G= , CM000676.2:g.77286776G=	GRCh38
NC_000014.8:g.77753119G= , CM000676.1:g.77753119G=	GRCh37
NC_000014.7:g.76822872G=	NCBI36
NG_008897.1:g.39107C= , LRG_844:g.39107C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.841C=	ENSP00000451967.2:p.Arg281=
ENST00000682247.1:c.1300C=	ENSP00000507213.1:p.Arg434=
ENST00000682382.1:c.872C=
ENST00000682395.1:n.1478C=
ENST00000682459.1:n.1003C=
ENST00000682467.1:c.1300C=	ENSP00000508062.1:p.Arg434=
ENST00000682706.1:n.77C=
ENST00000682795.1:c.1300C=	ENSP00000507574.1:p.Arg434=
ENST00000682895.1:n.1016C=
ENST00000682955.1:n.588C=
ENST00000683188.1:c.1275C=
ENST00000683328.1:c.293C=	ENSP00000508096.1:n.293C=
ENST00000683380.1:n.964C=
ENST00000683828.1:c.1009C=
ENST00000684259.1:n.1151C=
ENST00000684444.1:c.47C=
ENST00000684549.1:n.851C=
ENST00000261534.9:c.1300C= MANE Select	ENSP00000261534.4:p.Arg434=
ENST00000261534.8:c.1300C=	ENSP00000261534.4:p.Arg434=
ENST00000452340.7:n.1323C=
ENST00000553880.5:n.171C=
ENST00000554767.5:n.2086C=
ENST00000554884.5:n.292C=
ENST00000556404.1:n.434C=
ENST00000556851.1:n.336C=
ENST00000557675.5:n.390C=
NM_013382.5:c.1300C= , LRG_844t1:c.1300C=	NP_037514.2:p.Arg434=
XM_011536675.1:c.1300C=	XP_011534977.1:p.Arg434=
XM_011536676.1:c.967C=	XP_011534978.1:p.Arg323=
XM_011536677.1:c.841C=	XP_011534979.1:p.Arg281=
XM_011536678.1:c.1300C=	XP_011534980.1:p.Arg434=
XM_011536679.1:c.394C=	XP_011534981.1:p.Arg132=
XR_943416.1:n.1503C=
XM_011536675.2:c.1300C=	XP_011534977.1:p.Arg434=
XM_011536676.2:c.967C=	XP_011534978.1:p.Arg323=
XM_011536677.3:c.841C=	XP_011534979.1:p.Arg281=
XR_001750279.1:n.1500C=
XR_001750282.1:n.1953C=
XR_943416.3:n.1501C=
NM_013382.6:c.1300C=	NP_037514.2:p.Arg434=
NM_013382.7:c.1300C= MANE Select	NP_037514.2:p.Arg434=