Canonical Allele Identifier: CA2148330180

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286805T= , CM000676.2:g.77286805T=	GRCh38
NC_000014.8:g.77753148T= , CM000676.1:g.77753148T=	GRCh37
NC_000014.7:g.76822901T=	NCBI36
NG_008897.1:g.39078A= , LRG_844:g.39078A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.812A=	ENSP00000451967.2:p.His271=
ENST00000682247.1:c.1271A=	ENSP00000507213.1:p.His424=
ENST00000682382.1:c.843A=
ENST00000682395.1:n.1449A=
ENST00000682459.1:n.974A=
ENST00000682467.1:c.1271A=	ENSP00000508062.1:p.His424=
ENST00000682706.1:n.48A=
ENST00000682795.1:c.1271A=	ENSP00000507574.1:p.His424=
ENST00000682895.1:n.987A=
ENST00000682955.1:n.559A=
ENST00000683188.1:c.1246A=
ENST00000683328.1:c.264A=	ENSP00000508096.1:n.264A=
ENST00000683380.1:n.935A=
ENST00000683828.1:c.980A=
ENST00000684259.1:n.1122A=
ENST00000684444.1:c.18A=
ENST00000684549.1:n.822A=
ENST00000261534.9:c.1271A= MANE Select	ENSP00000261534.4:p.His424=
ENST00000261534.8:c.1271A=	ENSP00000261534.4:p.His424=
ENST00000452340.7:n.1294A=
ENST00000553880.5:n.142A=
ENST00000554767.5:n.2057A=
ENST00000554884.5:n.263A=
ENST00000556404.1:n.405A=
ENST00000556851.1:n.307A=
ENST00000557675.5:n.361A=
NM_013382.5:c.1271A= , LRG_844t1:c.1271A=	NP_037514.2:p.His424=
XM_011536675.1:c.1271A=	XP_011534977.1:p.His424=
XM_011536676.1:c.938A=	XP_011534978.1:p.His313=
XM_011536677.1:c.812A=	XP_011534979.1:p.His271=
XM_011536678.1:c.1271A=	XP_011534980.1:p.His424=
XM_011536679.1:c.365A=	XP_011534981.1:p.His122=
XR_943416.1:n.1474A=
XM_011536675.2:c.1271A=	XP_011534977.1:p.His424=
XM_011536676.2:c.938A=	XP_011534978.1:p.His313=
XM_011536677.3:c.812A=	XP_011534979.1:p.His271=
XR_001750279.1:n.1471A=
XR_001750282.1:n.1924A=
XR_943416.3:n.1472A=
NM_013382.6:c.1271A=	NP_037514.2:p.His424=
NM_013382.7:c.1271A= MANE Select	NP_037514.2:p.His424=