Canonical Allele Identifier: CA2148330175

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286804G= , CM000676.2:g.77286804G=	GRCh38
NC_000014.8:g.77753147G= , CM000676.1:g.77753147G=	GRCh37
NC_000014.7:g.76822900G=	NCBI36
NG_008897.1:g.39079C= , LRG_844:g.39079C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.813C=	ENSP00000451967.2:p.His271=
ENST00000682247.1:c.1272C=	ENSP00000507213.1:p.His424=
ENST00000682382.1:c.844C=
ENST00000682395.1:n.1450C=
ENST00000682459.1:n.975C=
ENST00000682467.1:c.1272C=	ENSP00000508062.1:p.His424=
ENST00000682706.1:n.49C=
ENST00000682795.1:c.1272C=	ENSP00000507574.1:p.His424=
ENST00000682895.1:n.988C=
ENST00000682955.1:n.560C=
ENST00000683188.1:c.1247C=
ENST00000683328.1:c.265C=	ENSP00000508096.1:n.265C=
ENST00000683380.1:n.936C=
ENST00000683828.1:c.981C=
ENST00000684259.1:n.1123C=
ENST00000684444.1:c.19C=
ENST00000684549.1:n.823C=
ENST00000261534.9:c.1272C= MANE Select	ENSP00000261534.4:p.His424=
ENST00000261534.8:c.1272C=	ENSP00000261534.4:p.His424=
ENST00000452340.7:n.1295C=
ENST00000553880.5:n.143C=
ENST00000554767.5:n.2058C=
ENST00000554884.5:n.264C=
ENST00000556404.1:n.406C=
ENST00000556851.1:n.308C=
ENST00000557675.5:n.362C=
NM_013382.5:c.1272C= , LRG_844t1:c.1272C=	NP_037514.2:p.His424=
XM_011536675.1:c.1272C=	XP_011534977.1:p.His424=
XM_011536676.1:c.939C=	XP_011534978.1:p.His313=
XM_011536677.1:c.813C=	XP_011534979.1:p.His271=
XM_011536678.1:c.1272C=	XP_011534980.1:p.His424=
XM_011536679.1:c.366C=	XP_011534981.1:p.His122=
XR_943416.1:n.1475C=
XM_011536675.2:c.1272C=	XP_011534977.1:p.His424=
XM_011536676.2:c.939C=	XP_011534978.1:p.His313=
XM_011536677.3:c.813C=	XP_011534979.1:p.His271=
XR_001750279.1:n.1472C=
XR_001750282.1:n.1925C=
XR_943416.3:n.1473C=
NM_013382.6:c.1272C=	NP_037514.2:p.His424=
NM_013382.7:c.1272C= MANE Select	NP_037514.2:p.His424=