Canonical Allele Identifier: CA2148315440

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278811A= , CM000676.2:g.77278811A=	GRCh38
NC_000014.8:g.77745154A= , CM000676.1:g.77745154A=	GRCh37
NC_000014.7:g.76814907A=	NCBI36
NG_008897.1:g.47072T= , LRG_844:g.47072T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.875T=
ENST00000556394.2:c.1491T=	ENSP00000451967.2:p.His497=
ENST00000682128.1:c.251T=	ENSP00000506976.1:n.251T=
ENST00000682247.1:c.1939T=	ENSP00000507213.1:p.Leu647=
ENST00000682395.1:n.2414T=
ENST00000682459.1:n.1653T=
ENST00000682467.1:c.1892-303T=	ENSP00000508062.1:n.1892-303T=
ENST00000682615.1:n.304T=
ENST00000682795.1:c.2097T=	ENSP00000507574.1:p.His699=
ENST00000682895.1:n.1666T=
ENST00000682955.1:n.1524T=
ENST00000683095.1:c.356T=	ENSP00000508040.1:n.356T=
ENST00000683188.1:c.2211T=
ENST00000683380.1:n.1614T=
ENST00000683828.1:c.1659T=
ENST00000683907.1:c.215T=	ENSP00000507754.1:p.Ile72=
ENST00000684172.1:c.326T=	ENSP00000508391.1:n.326T=
ENST00000684259.1:n.3717T=
ENST00000684538.1:n.1329T=
ENST00000684549.1:n.1501T=
ENST00000261534.9:c.1950T= MANE Select	ENSP00000261534.4:p.His650=
ENST00000261534.8:c.1950T=	ENSP00000261534.4:p.His650=
ENST00000452340.7:n.2926T=
ENST00000554767.5:n.2736T=
ENST00000555710.1:c.311T=	ENSP00000451730.1:n.311T=
ENST00000556171.1:c.542T=
ENST00000556394.1:c.88-303T=
ENST00000556446.1:n.251T=
ENST00000602717.5:c.165T=	ENSP00000487704.1:p.His55=
NM_013382.5:c.1950T= , LRG_844t1:c.1950T=	NP_037514.2:p.His650=
XM_011536675.1:c.2139T=	XP_011534977.1:p.His713=
XM_011536676.1:c.1806T=	XP_011534978.1:p.His602=
XM_011536677.1:c.1680T=	XP_011534979.1:p.His560=
XM_011536679.1:c.1233T=	XP_011534981.1:p.His411=
XR_943416.1:n.2203T=
XM_011536675.2:c.2139T=	XP_011534977.1:p.His713=
XM_011536676.2:c.1806T=	XP_011534978.1:p.His602=
XM_011536677.3:c.1680T=	XP_011534979.1:p.His560=
XR_001750279.1:n.2236T=
XR_001750282.1:n.2889T=
XR_943416.3:n.2201T=
NM_013382.6:c.1950T=	NP_037514.2:p.His650=
NM_013382.7:c.1950T= MANE Select	NP_037514.2:p.His650=