Canonical Allele Identifier: CA10605301
Gene: POMT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 285933
dbSNP Id: rs886043258

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77283830C>T , CM000676.2:g.77283830C>T GRCh38
NC_000014.8:g.77750173C>T , CM000676.1:g.77750173C>T GRCh37
NC_000014.7:g.76819926C>T NCBI36
NG_008897.1:g.42053G>A , LRG_844:g.42053G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555134.2:n.259G>A
ENST00000556394.2:c.1161G>A ENSP00000451967.2:p.Glu387=
ENST00000682247.1:c.1620G>A ENSP00000507213.1:p.Glu540=
ENST00000682382.1:c.2268G>A
ENST00000682395.1:n.1798G>A
ENST00000682459.1:n.1323G>A
ENST00000682467.1:c.1620G>A ENSP00000508062.1:p.Glu540=
ENST00000682560.1:c.196G>A ENSP00000507033.1:n.196G>A
ENST00000682729.1:c.204G>A
ENST00000682795.1:c.1620G>A ENSP00000507574.1:p.Glu540=
ENST00000682895.1:n.1336G>A
ENST00000682925.1:c.44G>A
ENST00000682955.1:n.908G>A
ENST00000683188.1:c.1595G>A
ENST00000683380.1:n.1284G>A
ENST00000683585.1:n.74G>A
ENST00000683828.1:c.1329G>A
ENST00000684259.1:n.2434G>A
ENST00000684549.1:n.1171G>A
ENST00000261534.9:c.1620G>A MANE Select ENSP00000261534.4:p.Glu540=
ENST00000261534.8:c.1620G>A ENSP00000261534.4:p.Glu540=
ENST00000452340.7:n.1643G>A
ENST00000554564.1:n.534G>A
ENST00000554767.5:n.2406G>A
ENST00000555134.1:n.259G>A
ENST00000556171.1:c.23G>A
NM_013382.5:c.1620G>A , LRG_844t1:c.1620G>A NP_037514.2:p.Glu540=
XM_011536675.1:c.1620G>A XP_011534977.1:p.Glu540=
XM_011536676.1:c.1287G>A XP_011534978.1:p.Glu429=
XM_011536677.1:c.1161G>A XP_011534979.1:p.Glu387=
XM_011536678.1:c.1620G>A XP_011534980.1:p.Glu540=
XM_011536679.1:c.714G>A XP_011534981.1:p.Glu238=
XR_943416.1:n.1823G>A
XM_011536675.2:c.1620G>A XP_011534977.1:p.Glu540=
XM_011536676.2:c.1287G>A XP_011534978.1:p.Glu429=
XM_011536677.3:c.1161G>A XP_011534979.1:p.Glu387=
XR_001750279.1:n.1820G>A
XR_001750282.1:n.2273G>A
XR_943416.3:n.1821G>A
NM_013382.6:c.1620G>A NP_037514.2:p.Glu540=
NM_013382.7:c.1620G>A MANE Select NP_037514.2:p.Glu540=