Canonical Allele Identifier: CA2148315407

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278800A= , CM000676.2:g.77278800A=	GRCh38
NC_000014.8:g.77745143A= , CM000676.1:g.77745143A=	GRCh37
NC_000014.7:g.76814896A=	NCBI36
NG_008897.1:g.47083T= , LRG_844:g.47083T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.886T=
ENST00000556394.2:c.1502T=	ENSP00000451967.2:p.Phe501=
ENST00000682128.1:c.262T=	ENSP00000506976.1:n.262T=
ENST00000682247.1:c.1950T=	ENSP00000507213.1:p.Val650=
ENST00000682395.1:n.2425T=
ENST00000682459.1:n.1664T=
ENST00000682467.1:c.1892-292T=	ENSP00000508062.1:n.1892-292T=
ENST00000682615.1:n.315T=
ENST00000682795.1:c.2108T=	ENSP00000507574.1:p.Phe703=
ENST00000682895.1:n.1677T=
ENST00000682955.1:n.1535T=
ENST00000683095.1:c.367T=	ENSP00000508040.1:n.367T=
ENST00000683188.1:c.2222T=
ENST00000683380.1:n.1625T=
ENST00000683828.1:c.1670T=
ENST00000683907.1:c.226T=	ENSP00000507754.1:p.Phe76=
ENST00000684172.1:c.337T=	ENSP00000508391.1:n.337T=
ENST00000684259.1:n.3728T=
ENST00000684538.1:n.1340T=
ENST00000684549.1:n.1512T=
ENST00000261534.9:c.1961T= MANE Select	ENSP00000261534.4:p.Phe654=
ENST00000261534.8:c.1961T=	ENSP00000261534.4:p.Phe654=
ENST00000452340.7:n.2937T=
ENST00000554767.5:n.2747T=
ENST00000555710.1:c.322T=	ENSP00000451730.1:n.322T=
ENST00000556171.1:c.553T=
ENST00000556394.1:c.88-292T=
ENST00000556446.1:n.262T=
ENST00000602717.5:c.176T=	ENSP00000487704.1:p.Phe59=
NM_013382.5:c.1961T= , LRG_844t1:c.1961T=	NP_037514.2:p.Phe654=
XM_011536675.1:c.2150T=	XP_011534977.1:p.Phe717=
XM_011536676.1:c.1817T=	XP_011534978.1:p.Phe606=
XM_011536677.1:c.1691T=	XP_011534979.1:p.Phe564=
XM_011536679.1:c.1244T=	XP_011534981.1:p.Phe415=
XR_943416.1:n.2214T=
XM_011536675.2:c.2150T=	XP_011534977.1:p.Phe717=
XM_011536676.2:c.1817T=	XP_011534978.1:p.Phe606=
XM_011536677.3:c.1691T=	XP_011534979.1:p.Phe564=
XR_001750279.1:n.2247T=
XR_001750282.1:n.2900T=
XR_943416.3:n.2212T=
NM_013382.6:c.1961T=	NP_037514.2:p.Phe654=
NM_013382.7:c.1961T= MANE Select	NP_037514.2:p.Phe654=