Canonical Allele Identifier: CA2148330168

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286802C= , CM000676.2:g.77286802C=	GRCh38
NC_000014.8:g.77753145C= , CM000676.1:g.77753145C=	GRCh37
NC_000014.7:g.76822898C=	NCBI36
NG_008897.1:g.39081G= , LRG_844:g.39081G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.815G=	ENSP00000451967.2:p.Ser272=
ENST00000682247.1:c.1274G=	ENSP00000507213.1:p.Ser425=
ENST00000682382.1:c.846G=
ENST00000682395.1:n.1452G=
ENST00000682459.1:n.977G=
ENST00000682467.1:c.1274G=	ENSP00000508062.1:p.Ser425=
ENST00000682706.1:n.51G=
ENST00000682795.1:c.1274G=	ENSP00000507574.1:p.Ser425=
ENST00000682895.1:n.990G=
ENST00000682955.1:n.562G=
ENST00000683188.1:c.1249G=
ENST00000683328.1:c.267G=	ENSP00000508096.1:n.267G=
ENST00000683380.1:n.938G=
ENST00000683828.1:c.983G=
ENST00000684259.1:n.1125G=
ENST00000684444.1:c.21G=
ENST00000684549.1:n.825G=
ENST00000261534.9:c.1274G= MANE Select	ENSP00000261534.4:p.Ser425=
ENST00000261534.8:c.1274G=	ENSP00000261534.4:p.Ser425=
ENST00000452340.7:n.1297G=
ENST00000553880.5:n.145G=
ENST00000554767.5:n.2060G=
ENST00000554884.5:n.266G=
ENST00000556404.1:n.408G=
ENST00000556851.1:n.310G=
ENST00000557675.5:n.364G=
NM_013382.5:c.1274G= , LRG_844t1:c.1274G=	NP_037514.2:p.Ser425=
XM_011536675.1:c.1274G=	XP_011534977.1:p.Ser425=
XM_011536676.1:c.941G=	XP_011534978.1:p.Ser314=
XM_011536677.1:c.815G=	XP_011534979.1:p.Ser272=
XM_011536678.1:c.1274G=	XP_011534980.1:p.Ser425=
XM_011536679.1:c.368G=	XP_011534981.1:p.Ser123=
XR_943416.1:n.1477G=
XM_011536675.2:c.1274G=	XP_011534977.1:p.Ser425=
XM_011536676.2:c.941G=	XP_011534978.1:p.Ser314=
XM_011536677.3:c.815G=	XP_011534979.1:p.Ser272=
XR_001750279.1:n.1474G=
XR_001750282.1:n.1927G=
XR_943416.3:n.1475G=
NM_013382.6:c.1274G=	NP_037514.2:p.Ser425=
NM_013382.7:c.1274G= MANE Select	NP_037514.2:p.Ser425=