Canonical Allele Identifier: CA2148330058

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286754C= , CM000676.2:g.77286754C=	GRCh38
NC_000014.8:g.77753097C= , CM000676.1:g.77753097C=	GRCh37
NC_000014.7:g.76822850C=	NCBI36
NG_008897.1:g.39129G= , LRG_844:g.39129G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.863G=	ENSP00000451967.2:p.Gly288=
ENST00000682247.1:c.1322G=	ENSP00000507213.1:p.Gly441=
ENST00000682382.1:c.894G=
ENST00000682395.1:n.1500G=
ENST00000682459.1:n.1025G=
ENST00000682467.1:c.1322G=	ENSP00000508062.1:p.Gly441=
ENST00000682706.1:n.99G=
ENST00000682795.1:c.1322G=	ENSP00000507574.1:p.Gly441=
ENST00000682895.1:n.1038G=
ENST00000682955.1:n.610G=
ENST00000683188.1:c.1297G=
ENST00000683328.1:c.315G=	ENSP00000508096.1:n.315G=
ENST00000683380.1:n.986G=
ENST00000683828.1:c.1031G=
ENST00000684259.1:n.1173G=
ENST00000684444.1:c.69G=
ENST00000684549.1:n.873G=
ENST00000261534.9:c.1322G= MANE Select	ENSP00000261534.4:p.Gly441=
ENST00000261534.8:c.1322G=	ENSP00000261534.4:p.Gly441=
ENST00000452340.7:n.1345G=
ENST00000553880.5:n.193G=
ENST00000554767.5:n.2108G=
ENST00000554884.5:n.314G=
ENST00000556404.1:n.456G=
ENST00000556851.1:n.358G=
ENST00000557675.5:n.412G=
NM_013382.5:c.1322G= , LRG_844t1:c.1322G=	NP_037514.2:p.Gly441=
XM_011536675.1:c.1322G=	XP_011534977.1:p.Gly441=
XM_011536676.1:c.989G=	XP_011534978.1:p.Gly330=
XM_011536677.1:c.863G=	XP_011534979.1:p.Gly288=
XM_011536678.1:c.1322G=	XP_011534980.1:p.Gly441=
XM_011536679.1:c.416G=	XP_011534981.1:p.Gly139=
XR_943416.1:n.1525G=
XM_011536675.2:c.1322G=	XP_011534977.1:p.Gly441=
XM_011536676.2:c.989G=	XP_011534978.1:p.Gly330=
XM_011536677.3:c.863G=	XP_011534979.1:p.Gly288=
XR_001750279.1:n.1522G=
XR_001750282.1:n.1975G=
XR_943416.3:n.1523G=
NM_013382.6:c.1322G=	NP_037514.2:p.Gly441=
NM_013382.7:c.1322G= MANE Select	NP_037514.2:p.Gly441=