Canonical Allele Identifier: CA2148315433

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278808G= , CM000676.2:g.77278808G=	GRCh38
NC_000014.8:g.77745151G= , CM000676.1:g.77745151G=	GRCh37
NC_000014.7:g.76814904G=	NCBI36
NG_008897.1:g.47075C= , LRG_844:g.47075C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.878C=
ENST00000556394.2:c.1494C=	ENSP00000451967.2:p.Tyr498=
ENST00000682128.1:c.254C=	ENSP00000506976.1:n.254C=
ENST00000682247.1:c.1942C=	ENSP00000507213.1:p.Leu648=
ENST00000682395.1:n.2417C=
ENST00000682459.1:n.1656C=
ENST00000682467.1:c.1892-300C=	ENSP00000508062.1:n.1892-300C=
ENST00000682615.1:n.307C=
ENST00000682795.1:c.2100C=	ENSP00000507574.1:p.Tyr700=
ENST00000682895.1:n.1669C=
ENST00000682955.1:n.1527C=
ENST00000683095.1:c.359C=	ENSP00000508040.1:n.359C=
ENST00000683188.1:c.2214C=
ENST00000683380.1:n.1617C=
ENST00000683828.1:c.1662C=
ENST00000683907.1:c.218C=	ENSP00000507754.1:p.Thr73=
ENST00000684172.1:c.329C=	ENSP00000508391.1:n.329C=
ENST00000684259.1:n.3720C=
ENST00000684538.1:n.1332C=
ENST00000684549.1:n.1504C=
ENST00000261534.9:c.1953C= MANE Select	ENSP00000261534.4:p.Tyr651=
ENST00000261534.8:c.1953C=	ENSP00000261534.4:p.Tyr651=
ENST00000452340.7:n.2929C=
ENST00000554767.5:n.2739C=
ENST00000555710.1:c.314C=	ENSP00000451730.1:n.314C=
ENST00000556171.1:c.545C=
ENST00000556394.1:c.88-300C=
ENST00000556446.1:n.254C=
ENST00000602717.5:c.168C=	ENSP00000487704.1:p.Tyr56=
NM_013382.5:c.1953C= , LRG_844t1:c.1953C=	NP_037514.2:p.Tyr651=
XM_011536675.1:c.2142C=	XP_011534977.1:p.Tyr714=
XM_011536676.1:c.1809C=	XP_011534978.1:p.Tyr603=
XM_011536677.1:c.1683C=	XP_011534979.1:p.Tyr561=
XM_011536679.1:c.1236C=	XP_011534981.1:p.Tyr412=
XR_943416.1:n.2206C=
XM_011536675.2:c.2142C=	XP_011534977.1:p.Tyr714=
XM_011536676.2:c.1809C=	XP_011534978.1:p.Tyr603=
XM_011536677.3:c.1683C=	XP_011534979.1:p.Tyr561=
XR_001750279.1:n.2239C=
XR_001750282.1:n.2892C=
XR_943416.3:n.2204C=
NM_013382.6:c.1953C=	NP_037514.2:p.Tyr651=
NM_013382.7:c.1953C= MANE Select	NP_037514.2:p.Tyr651=