Canonical Allele Identifier: CA2148330139

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286782T= , CM000676.2:g.77286782T=	GRCh38
NC_000014.8:g.77753125T= , CM000676.1:g.77753125T=	GRCh37
NC_000014.7:g.76822878T=	NCBI36
NG_008897.1:g.39101A= , LRG_844:g.39101A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.835A=	ENSP00000451967.2:p.Met279=
ENST00000682247.1:c.1294A=	ENSP00000507213.1:p.Met432=
ENST00000682382.1:c.866A=
ENST00000682395.1:n.1472A=
ENST00000682459.1:n.997A=
ENST00000682467.1:c.1294A=	ENSP00000508062.1:p.Met432=
ENST00000682706.1:n.71A=
ENST00000682795.1:c.1294A=	ENSP00000507574.1:p.Met432=
ENST00000682895.1:n.1010A=
ENST00000682955.1:n.582A=
ENST00000683188.1:c.1269A=
ENST00000683328.1:c.287A=	ENSP00000508096.1:n.287A=
ENST00000683380.1:n.958A=
ENST00000683828.1:c.1003A=
ENST00000684259.1:n.1145A=
ENST00000684444.1:c.41A=
ENST00000684549.1:n.845A=
ENST00000261534.9:c.1294A= MANE Select	ENSP00000261534.4:p.Met432=
ENST00000261534.8:c.1294A=	ENSP00000261534.4:p.Met432=
ENST00000452340.7:n.1317A=
ENST00000553880.5:n.165A=
ENST00000554767.5:n.2080A=
ENST00000554884.5:n.286A=
ENST00000556404.1:n.428A=
ENST00000556851.1:n.330A=
ENST00000557675.5:n.384A=
NM_013382.5:c.1294A= , LRG_844t1:c.1294A=	NP_037514.2:p.Met432=
XM_011536675.1:c.1294A=	XP_011534977.1:p.Met432=
XM_011536676.1:c.961A=	XP_011534978.1:p.Met321=
XM_011536677.1:c.835A=	XP_011534979.1:p.Met279=
XM_011536678.1:c.1294A=	XP_011534980.1:p.Met432=
XM_011536679.1:c.388A=	XP_011534981.1:p.Met130=
XR_943416.1:n.1497A=
XM_011536675.2:c.1294A=	XP_011534977.1:p.Met432=
XM_011536676.2:c.961A=	XP_011534978.1:p.Met321=
XM_011536677.3:c.835A=	XP_011534979.1:p.Met279=
XR_001750279.1:n.1494A=
XR_001750282.1:n.1947A=
XR_943416.3:n.1495A=
NM_013382.6:c.1294A=	NP_037514.2:p.Met432=
NM_013382.7:c.1294A= MANE Select	NP_037514.2:p.Met432=