Canonical Allele Identifier: CA2148328877

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306344A= , CM000676.2:g.77306344A=	GRCh38
NC_000014.8:g.77772687A= , CM000676.1:g.77772687A=	GRCh37
NC_000014.7:g.76842440A=	NCBI36
NG_008897.1:g.19539T= , LRG_844:g.19539T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.160T=
ENST00000556394.2:c.249-1544T=	ENSP00000451967.2:n.249-1544T=
ENST00000556880.6:n.364T=
ENST00000682247.1:c.431T=	ENSP00000507213.1:p.Met144=
ENST00000682382.1:c.379T=
ENST00000682395.1:n.160T=
ENST00000682459.1:n.102+58T=
ENST00000682467.1:c.431T=	ENSP00000508062.1:p.Met144=
ENST00000682795.1:c.431T=	ENSP00000507574.1:p.Met144=
ENST00000682895.1:n.147T=
ENST00000682955.1:n.102+58T=
ENST00000683188.1:c.226T=
ENST00000683380.1:n.102+58T=
ENST00000683828.1:c.300T=
ENST00000684066.1:n.126T=
ENST00000684102.1:n.177T=
ENST00000684259.1:n.282T=
ENST00000684479.1:n.98T=
ENST00000684549.1:n.160T=
ENST00000684600.1:c.245T=
ENST00000684670.1:n.98T=
ENST00000684746.1:n.128T=
ENST00000261534.9:c.431T= MANE Select	ENSP00000261534.4:p.Met144=
ENST00000261534.8:c.431T=	ENSP00000261534.4:p.Met144=
ENST00000452340.7:n.454T=
ENST00000553863.5:n.102+58T=
ENST00000554948.1:c.158T=	ENSP00000452060.1:p.Met53=
ENST00000555675.5:n.147T=
ENST00000555788.5:n.265T=
ENST00000556326.5:c.*97T=	ENSP00000450630.1:n.*97T=
ENST00000556880.5:n.364T=
ENST00000557525.1:n.521T=
NM_013382.5:c.431T= , LRG_844t1:c.431T=	NP_037514.2:p.Met144=
XM_011536675.1:c.431T=	XP_011534977.1:p.Met144=
XM_011536676.1:c.98T=	XP_011534978.1:p.Met33=
XM_011536677.1:c.431T=	XP_011534979.1:p.Met144=
XM_011536678.1:c.431T=	XP_011534980.1:p.Met144=
XM_011536680.1:c.431T=	XP_011534982.1:p.Met144=
XR_943416.1:n.634T=
XM_011536675.2:c.431T=	XP_011534977.1:p.Met144=
XM_011536676.2:c.98T=	XP_011534978.1:p.Met33=
XM_011536677.3:c.431T=	XP_011534979.1:p.Met144=
XR_001750279.1:n.631T=
XR_001750282.1:n.635T=
XR_943416.3:n.632T=
NM_013382.6:c.431T=	NP_037514.2:p.Met144=
NM_013382.7:c.431T= MANE Select	NP_037514.2:p.Met144=