Canonical Allele Identifier: CA2148315323

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278753T= , CM000676.2:g.77278753T=	GRCh38
NC_000014.8:g.77745096T= , CM000676.1:g.77745096T=	GRCh37
NC_000014.7:g.76814849T=	NCBI36
NG_008897.1:g.47130A= , LRG_844:g.47130A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.933A=
ENST00000556394.2:c.1549A=	ENSP00000451967.2:p.Met517=
ENST00000682128.1:c.309A=	ENSP00000506976.1:n.309A=
ENST00000682247.1:c.1997A=	ENSP00000507213.1:p.His666=
ENST00000682395.1:n.2472A=
ENST00000682459.1:n.1711A=
ENST00000682467.1:c.1892-245A=	ENSP00000508062.1:n.1892-245A=
ENST00000682615.1:n.362A=
ENST00000682795.1:c.2155A=	ENSP00000507574.1:p.Met719=
ENST00000682895.1:n.1724A=
ENST00000682955.1:n.1582A=
ENST00000683095.1:c.414A=	ENSP00000508040.1:n.414A=
ENST00000683188.1:c.2269A=
ENST00000683380.1:n.1672A=
ENST00000683907.1:c.273A=	ENSP00000507754.1:n.273A=
ENST00000684172.1:c.384A=	ENSP00000508391.1:n.384A=
ENST00000684259.1:n.3775A=
ENST00000684538.1:n.1387A=
ENST00000684549.1:n.1559A=
ENST00000261534.9:c.2008A= MANE Select	ENSP00000261534.4:p.Met670=
ENST00000261534.8:c.2008A=	ENSP00000261534.4:p.Met670=
ENST00000452340.7:n.2984A=
ENST00000554767.5:n.2794A=
ENST00000555710.1:c.369A=	ENSP00000451730.1:n.369A=
ENST00000556394.1:c.88-245A=
ENST00000556446.1:n.309A=
ENST00000602717.5:c.223A=	ENSP00000487704.1:p.Met75=
NM_013382.5:c.2008A= , LRG_844t1:c.2008A=	NP_037514.2:p.Met670=
XM_011536675.1:c.2197A=	XP_011534977.1:p.Met733=
XM_011536676.1:c.1864A=	XP_011534978.1:p.Met622=
XM_011536677.1:c.1738A=	XP_011534979.1:p.Met580=
XM_011536679.1:c.1291A=	XP_011534981.1:p.Met431=
XR_943416.1:n.2261A=
XM_011536675.2:c.2197A=	XP_011534977.1:p.Met733=
XM_011536676.2:c.1864A=	XP_011534978.1:p.Met622=
XM_011536677.3:c.1738A=	XP_011534979.1:p.Met580=
XR_001750279.1:n.2294A=
XR_001750282.1:n.2947A=
XR_943416.3:n.2259A=
NM_013382.6:c.2008A=	NP_037514.2:p.Met670=
NM_013382.7:c.2008A= MANE Select	NP_037514.2:p.Met670=