Canonical Allele Identifier: CA2148315418

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278803G= , CM000676.2:g.77278803G=	GRCh38
NC_000014.8:g.77745146G= , CM000676.1:g.77745146G=	GRCh37
NC_000014.7:g.76814899G=	NCBI36
NG_008897.1:g.47080C= , LRG_844:g.47080C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.883C=
ENST00000556394.2:c.1499C=	ENSP00000451967.2:p.Pro500=
ENST00000682128.1:c.259C=	ENSP00000506976.1:n.259C=
ENST00000682247.1:c.1947C=	ENSP00000507213.1:p.Pro649=
ENST00000682395.1:n.2422C=
ENST00000682459.1:n.1661C=
ENST00000682467.1:c.1892-295C=	ENSP00000508062.1:n.1892-295C=
ENST00000682615.1:n.312C=
ENST00000682795.1:c.2105C=	ENSP00000507574.1:p.Pro702=
ENST00000682895.1:n.1674C=
ENST00000682955.1:n.1532C=
ENST00000683095.1:c.364C=	ENSP00000508040.1:n.364C=
ENST00000683188.1:c.2219C=
ENST00000683380.1:n.1622C=
ENST00000683828.1:c.1667C=
ENST00000683907.1:c.223C=	ENSP00000507754.1:p.Arg75=
ENST00000684172.1:c.334C=	ENSP00000508391.1:n.334C=
ENST00000684259.1:n.3725C=
ENST00000684538.1:n.1337C=
ENST00000684549.1:n.1509C=
ENST00000261534.9:c.1958C= MANE Select	ENSP00000261534.4:p.Pro653=
ENST00000261534.8:c.1958C=	ENSP00000261534.4:p.Pro653=
ENST00000452340.7:n.2934C=
ENST00000554767.5:n.2744C=
ENST00000555710.1:c.319C=	ENSP00000451730.1:n.319C=
ENST00000556171.1:c.550C=
ENST00000556394.1:c.88-295C=
ENST00000556446.1:n.259C=
ENST00000602717.5:c.173C=	ENSP00000487704.1:p.Pro58=
NM_013382.5:c.1958C= , LRG_844t1:c.1958C=	NP_037514.2:p.Pro653=
XM_011536675.1:c.2147C=	XP_011534977.1:p.Pro716=
XM_011536676.1:c.1814C=	XP_011534978.1:p.Pro605=
XM_011536677.1:c.1688C=	XP_011534979.1:p.Pro563=
XM_011536679.1:c.1241C=	XP_011534981.1:p.Pro414=
XR_943416.1:n.2211C=
XM_011536675.2:c.2147C=	XP_011534977.1:p.Pro716=
XM_011536676.2:c.1814C=	XP_011534978.1:p.Pro605=
XM_011536677.3:c.1688C=	XP_011534979.1:p.Pro563=
XR_001750279.1:n.2244C=
XR_001750282.1:n.2897C=
XR_943416.3:n.2209C=
NM_013382.6:c.1958C=	NP_037514.2:p.Pro653=
NM_013382.7:c.1958C= MANE Select	NP_037514.2:p.Pro653=