Canonical Allele Identifier: CA2148330197

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286814C= , CM000676.2:g.77286814C=	GRCh38
NC_000014.8:g.77753157C= , CM000676.1:g.77753157C=	GRCh37
NC_000014.7:g.76822910C=	NCBI36
NG_008897.1:g.39069G= , LRG_844:g.39069G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.803G=	ENSP00000451967.2:p.Arg268=
ENST00000682247.1:c.1262G=	ENSP00000507213.1:p.Arg421=
ENST00000682382.1:c.834G=
ENST00000682395.1:n.1440G=
ENST00000682459.1:n.965G=
ENST00000682467.1:c.1262G=	ENSP00000508062.1:p.Arg421=
ENST00000682706.1:n.39G=
ENST00000682795.1:c.1262G=	ENSP00000507574.1:p.Arg421=
ENST00000682895.1:n.978G=
ENST00000682955.1:n.550G=
ENST00000683188.1:c.1237G=
ENST00000683328.1:c.255G=	ENSP00000508096.1:n.255G=
ENST00000683380.1:n.926G=
ENST00000683828.1:c.971G=
ENST00000684259.1:n.1113G=
ENST00000684444.1:c.9G=
ENST00000684549.1:n.813G=
ENST00000261534.9:c.1262G= MANE Select	ENSP00000261534.4:p.Arg421=
ENST00000261534.8:c.1262G=	ENSP00000261534.4:p.Arg421=
ENST00000452340.7:n.1285G=
ENST00000553880.5:n.133G=
ENST00000554767.5:n.2048G=
ENST00000554884.5:n.254G=
ENST00000556404.1:n.396G=
ENST00000556851.1:n.298G=
ENST00000557675.5:n.352G=
NM_013382.5:c.1262G= , LRG_844t1:c.1262G=	NP_037514.2:p.Arg421=
XM_011536675.1:c.1262G=	XP_011534977.1:p.Arg421=
XM_011536676.1:c.929G=	XP_011534978.1:p.Arg310=
XM_011536677.1:c.803G=	XP_011534979.1:p.Arg268=
XM_011536678.1:c.1262G=	XP_011534980.1:p.Arg421=
XM_011536679.1:c.356G=	XP_011534981.1:p.Arg119=
XR_943416.1:n.1465G=
XM_011536675.2:c.1262G=	XP_011534977.1:p.Arg421=
XM_011536676.2:c.929G=	XP_011534978.1:p.Arg310=
XM_011536677.3:c.803G=	XP_011534979.1:p.Arg268=
XR_001750279.1:n.1462G=
XR_001750282.1:n.1915G=
XR_943416.3:n.1463G=
NM_013382.6:c.1262G=	NP_037514.2:p.Arg421=
NM_013382.7:c.1262G= MANE Select	NP_037514.2:p.Arg421=