Canonical Allele Identifier: CA2148330159

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286793T= , CM000676.2:g.77286793T=	GRCh38
NC_000014.8:g.77753136T= , CM000676.1:g.77753136T=	GRCh37
NC_000014.7:g.76822889T=	NCBI36
NG_008897.1:g.39090A= , LRG_844:g.39090A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.824A=	ENSP00000451967.2:p.His275=
ENST00000682247.1:c.1283A=	ENSP00000507213.1:p.His428=
ENST00000682382.1:c.855A=
ENST00000682395.1:n.1461A=
ENST00000682459.1:n.986A=
ENST00000682467.1:c.1283A=	ENSP00000508062.1:p.His428=
ENST00000682706.1:n.60A=
ENST00000682795.1:c.1283A=	ENSP00000507574.1:p.His428=
ENST00000682895.1:n.999A=
ENST00000682955.1:n.571A=
ENST00000683188.1:c.1258A=
ENST00000683328.1:c.276A=	ENSP00000508096.1:n.276A=
ENST00000683380.1:n.947A=
ENST00000683828.1:c.992A=
ENST00000684259.1:n.1134A=
ENST00000684444.1:c.30A=
ENST00000684549.1:n.834A=
ENST00000261534.9:c.1283A= MANE Select	ENSP00000261534.4:p.His428=
ENST00000261534.8:c.1283A=	ENSP00000261534.4:p.His428=
ENST00000452340.7:n.1306A=
ENST00000553880.5:n.154A=
ENST00000554767.5:n.2069A=
ENST00000554884.5:n.275A=
ENST00000556404.1:n.417A=
ENST00000556851.1:n.319A=
ENST00000557675.5:n.373A=
NM_013382.5:c.1283A= , LRG_844t1:c.1283A=	NP_037514.2:p.His428=
XM_011536675.1:c.1283A=	XP_011534977.1:p.His428=
XM_011536676.1:c.950A=	XP_011534978.1:p.His317=
XM_011536677.1:c.824A=	XP_011534979.1:p.His275=
XM_011536678.1:c.1283A=	XP_011534980.1:p.His428=
XM_011536679.1:c.377A=	XP_011534981.1:p.His126=
XR_943416.1:n.1486A=
XM_011536675.2:c.1283A=	XP_011534977.1:p.His428=
XM_011536676.2:c.950A=	XP_011534978.1:p.His317=
XM_011536677.3:c.824A=	XP_011534979.1:p.His275=
XR_001750279.1:n.1483A=
XR_001750282.1:n.1936A=
XR_943416.3:n.1484A=
NM_013382.6:c.1283A=	NP_037514.2:p.His428=
NM_013382.7:c.1283A= MANE Select	NP_037514.2:p.His428=