Canonical Allele Identifier: CA2148330122

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286772T= , CM000676.2:g.77286772T=	GRCh38
NC_000014.8:g.77753115T= , CM000676.1:g.77753115T=	GRCh37
NC_000014.7:g.76822868T=	NCBI36
NG_008897.1:g.39111A= , LRG_844:g.39111A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.845A=	ENSP00000451967.2:p.Lys282=
ENST00000682247.1:c.1304A=	ENSP00000507213.1:p.Lys435=
ENST00000682382.1:c.876A=
ENST00000682395.1:n.1482A=
ENST00000682459.1:n.1007A=
ENST00000682467.1:c.1304A=	ENSP00000508062.1:p.Lys435=
ENST00000682706.1:n.81A=
ENST00000682795.1:c.1304A=	ENSP00000507574.1:p.Lys435=
ENST00000682895.1:n.1020A=
ENST00000682955.1:n.592A=
ENST00000683188.1:c.1279A=
ENST00000683328.1:c.297A=	ENSP00000508096.1:n.297A=
ENST00000683380.1:n.968A=
ENST00000683828.1:c.1013A=
ENST00000684259.1:n.1155A=
ENST00000684444.1:c.51A=
ENST00000684549.1:n.855A=
ENST00000261534.9:c.1304A= MANE Select	ENSP00000261534.4:p.Lys435=
ENST00000261534.8:c.1304A=	ENSP00000261534.4:p.Lys435=
ENST00000452340.7:n.1327A=
ENST00000553880.5:n.175A=
ENST00000554767.5:n.2090A=
ENST00000554884.5:n.296A=
ENST00000556404.1:n.438A=
ENST00000556851.1:n.340A=
ENST00000557675.5:n.394A=
NM_013382.5:c.1304A= , LRG_844t1:c.1304A=	NP_037514.2:p.Lys435=
XM_011536675.1:c.1304A=	XP_011534977.1:p.Lys435=
XM_011536676.1:c.971A=	XP_011534978.1:p.Lys324=
XM_011536677.1:c.845A=	XP_011534979.1:p.Lys282=
XM_011536678.1:c.1304A=	XP_011534980.1:p.Lys435=
XM_011536679.1:c.398A=	XP_011534981.1:p.Lys133=
XR_943416.1:n.1507A=
XM_011536675.2:c.1304A=	XP_011534977.1:p.Lys435=
XM_011536676.2:c.971A=	XP_011534978.1:p.Lys324=
XM_011536677.3:c.845A=	XP_011534979.1:p.Lys282=
XR_001750279.1:n.1504A=
XR_001750282.1:n.1957A=
XR_943416.3:n.1505A=
NM_013382.6:c.1304A=	NP_037514.2:p.Lys435=
NM_013382.7:c.1304A= MANE Select	NP_037514.2:p.Lys435=