Canonical Allele Identifier: CA487509501

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745181G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278838G>C , CM000676.2:g.77278838G>C	GRCh38
NC_000014.8:g.77745181G>C , CM000676.1:g.77745181G>C	GRCh37
NC_000014.7:g.76814934G>C	NCBI36
NG_008897.1:g.47045C>G , LRG_844:g.47045C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.848C>G
ENST00000556394.2:c.1464C>G	ENSP00000451967.2:p.Gly488=
ENST00000682128.1:c.224C>G	ENSP00000506976.1:n.224C>G
ENST00000682247.1:c.1912C>G	ENSP00000507213.1:p.Pro638Ala
ENST00000682395.1:n.2387C>G
ENST00000682459.1:n.1626C>G
ENST00000682467.1:c.1892-330C>G	ENSP00000508062.1:n.1892-330C>G
ENST00000682615.1:n.277C>G
ENST00000682795.1:c.2070C>G	ENSP00000507574.1:p.Gly690=
ENST00000682895.1:n.1639C>G
ENST00000682955.1:n.1497C>G
ENST00000683095.1:c.329C>G	ENSP00000508040.1:n.329C>G
ENST00000683188.1:c.2184C>G
ENST00000683380.1:n.1587C>G
ENST00000683828.1:c.1632C>G
ENST00000683907.1:c.188C>G	ENSP00000507754.1:p.Ala63Gly
ENST00000684172.1:c.299C>G	ENSP00000508391.1:n.299C>G
ENST00000684259.1:n.3690C>G
ENST00000684538.1:n.1302C>G
ENST00000684549.1:n.1474C>G
ENST00000261534.9:c.1923C>G MANE Select	ENSP00000261534.4:p.Gly641=
ENST00000261534.8:c.1923C>G	ENSP00000261534.4:p.Gly641=
ENST00000452340.7:n.2899C>G
ENST00000554767.5:n.2709C>G
ENST00000555134.1:n.848C>G
ENST00000555710.1:c.284C>G	ENSP00000451730.1:n.284C>G
ENST00000556171.1:c.515C>G
ENST00000556394.1:c.88-330C>G
ENST00000556446.1:n.224C>G
ENST00000602717.5:c.138C>G	ENSP00000487704.1:p.Gly46=
NM_013382.5:c.1923C>G , LRG_844t1:c.1923C>G	NP_037514.2:p.Gly641=
XM_011536675.1:c.2112C>G	XP_011534977.1:p.Gly704=
XM_011536676.1:c.1779C>G	XP_011534978.1:p.Gly593=
XM_011536677.1:c.1653C>G	XP_011534979.1:p.Gly551=
XM_011536679.1:c.1206C>G	XP_011534981.1:p.Gly402=
XR_943416.1:n.2176C>G
XM_011536675.2:c.2112C>G	XP_011534977.1:p.Gly704=
XM_011536676.2:c.1779C>G	XP_011534978.1:p.Gly593=
XM_011536677.3:c.1653C>G	XP_011534979.1:p.Gly551=
XR_001750279.1:n.2209C>G
XR_001750282.1:n.2862C>G
XR_943416.3:n.2174C>G
NM_013382.6:c.1923C>G	NP_037514.2:p.Gly641=
NM_013382.7:c.1923C>G MANE Select	NP_037514.2:p.Gly641=