Canonical Allele Identifier: CA2148315341

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278764T= , CM000676.2:g.77278764T=	GRCh38
NC_000014.8:g.77745107T= , CM000676.1:g.77745107T=	GRCh37
NC_000014.7:g.76814860T=	NCBI36
NG_008897.1:g.47119A= , LRG_844:g.47119A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.922A=
ENST00000556394.2:c.1538A=	ENSP00000451967.2:p.Tyr513=
ENST00000682128.1:c.298A=	ENSP00000506976.1:n.298A=
ENST00000682247.1:c.1986A=	ENSP00000507213.1:p.Leu662=
ENST00000682395.1:n.2461A=
ENST00000682459.1:n.1700A=
ENST00000682467.1:c.1892-256A=	ENSP00000508062.1:n.1892-256A=
ENST00000682615.1:n.351A=
ENST00000682795.1:c.2144A=	ENSP00000507574.1:p.Tyr715=
ENST00000682895.1:n.1713A=
ENST00000682955.1:n.1571A=
ENST00000683095.1:c.403A=	ENSP00000508040.1:n.403A=
ENST00000683188.1:c.2258A=
ENST00000683380.1:n.1661A=
ENST00000683907.1:c.262A=	ENSP00000507754.1:n.262A=
ENST00000684172.1:c.373A=	ENSP00000508391.1:n.373A=
ENST00000684259.1:n.3764A=
ENST00000684538.1:n.1376A=
ENST00000684549.1:n.1548A=
ENST00000261534.9:c.1997A= MANE Select	ENSP00000261534.4:p.Tyr666=
ENST00000261534.8:c.1997A=	ENSP00000261534.4:p.Tyr666=
ENST00000452340.7:n.2973A=
ENST00000554767.5:n.2783A=
ENST00000555710.1:c.358A=	ENSP00000451730.1:n.358A=
ENST00000556394.1:c.88-256A=
ENST00000556446.1:n.298A=
ENST00000602717.5:c.212A=	ENSP00000487704.1:p.Tyr71=
NM_013382.5:c.1997A= , LRG_844t1:c.1997A=	NP_037514.2:p.Tyr666=
XM_011536675.1:c.2186A=	XP_011534977.1:p.Tyr729=
XM_011536676.1:c.1853A=	XP_011534978.1:p.Tyr618=
XM_011536677.1:c.1727A=	XP_011534979.1:p.Tyr576=
XM_011536679.1:c.1280A=	XP_011534981.1:p.Tyr427=
XR_943416.1:n.2250A=
XM_011536675.2:c.2186A=	XP_011534977.1:p.Tyr729=
XM_011536676.2:c.1853A=	XP_011534978.1:p.Tyr618=
XM_011536677.3:c.1727A=	XP_011534979.1:p.Tyr576=
XR_001750279.1:n.2283A=
XR_001750282.1:n.2936A=
XR_943416.3:n.2248A=
NM_013382.6:c.1997A=	NP_037514.2:p.Tyr666=
NM_013382.7:c.1997A= MANE Select	NP_037514.2:p.Tyr666=