Canonical Allele Identifier: CA2148330087

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286763T= , CM000676.2:g.77286763T=	GRCh38
NC_000014.8:g.77753106T= , CM000676.1:g.77753106T=	GRCh37
NC_000014.7:g.76822859T=	NCBI36
NG_008897.1:g.39120A= , LRG_844:g.39120A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.854A=	ENSP00000451967.2:p.Gln285=
ENST00000682247.1:c.1313A=	ENSP00000507213.1:p.Gln438=
ENST00000682382.1:c.885A=
ENST00000682395.1:n.1491A=
ENST00000682459.1:n.1016A=
ENST00000682467.1:c.1313A=	ENSP00000508062.1:p.Gln438=
ENST00000682706.1:n.90A=
ENST00000682795.1:c.1313A=	ENSP00000507574.1:p.Gln438=
ENST00000682895.1:n.1029A=
ENST00000682955.1:n.601A=
ENST00000683188.1:c.1288A=
ENST00000683328.1:c.306A=	ENSP00000508096.1:n.306A=
ENST00000683380.1:n.977A=
ENST00000683828.1:c.1022A=
ENST00000684259.1:n.1164A=
ENST00000684444.1:c.60A=
ENST00000684549.1:n.864A=
ENST00000261534.9:c.1313A= MANE Select	ENSP00000261534.4:p.Gln438=
ENST00000261534.8:c.1313A=	ENSP00000261534.4:p.Gln438=
ENST00000452340.7:n.1336A=
ENST00000553880.5:n.184A=
ENST00000554767.5:n.2099A=
ENST00000554884.5:n.305A=
ENST00000556404.1:n.447A=
ENST00000556851.1:n.349A=
ENST00000557675.5:n.403A=
NM_013382.5:c.1313A= , LRG_844t1:c.1313A=	NP_037514.2:p.Gln438=
XM_011536675.1:c.1313A=	XP_011534977.1:p.Gln438=
XM_011536676.1:c.980A=	XP_011534978.1:p.Gln327=
XM_011536677.1:c.854A=	XP_011534979.1:p.Gln285=
XM_011536678.1:c.1313A=	XP_011534980.1:p.Gln438=
XM_011536679.1:c.407A=	XP_011534981.1:p.Gln136=
XR_943416.1:n.1516A=
XM_011536675.2:c.1313A=	XP_011534977.1:p.Gln438=
XM_011536676.2:c.980A=	XP_011534978.1:p.Gln327=
XM_011536677.3:c.854A=	XP_011534979.1:p.Gln285=
XR_001750279.1:n.1513A=
XR_001750282.1:n.1966A=
XR_943416.3:n.1514A=
NM_013382.6:c.1313A=	NP_037514.2:p.Gln438=
NM_013382.7:c.1313A= MANE Select	NP_037514.2:p.Gln438=