Canonical Allele Identifier: CA2148342461
Gene: POMT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77301233_77301234delinsAG , CM000676.2:g.77301233_77301234delinsAG GRCh38
NC_000014.8:g.77767576_77767577delinsAG , CM000676.1:g.77767576_77767577delinsAG GRCh37
NC_000014.7:g.76837329_76837330delinsAG NCBI36
NG_008897.1:g.24649_24650delinsCT , LRG_844:g.24649_24650delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553863.6:c.125_126delinsCT ENSP00000508202.1:p.Pro42=
ENST00000556394.2:c.358-1673_358-1672delinsCT ENSP00000451967.2:n.358-1673_358-1672delinsCT
ENST00000556880.6:n.696_697delinsCT
ENST00000557289.2:c.16_17delinsCT
ENST00000682247.1:c.672_673delinsCT ENSP00000507213.1:p.Pro224=
ENST00000682382.1:c.496-2463_496-2462delinsCT
ENST00000682395.1:n.401_402delinsCT
ENST00000682459.1:n.336_337delinsCT
ENST00000682467.1:c.672_673delinsCT ENSP00000508062.1:p.Pro224=
ENST00000682795.1:c.672_673delinsCT ENSP00000507574.1:p.Pro224=
ENST00000682895.1:n.388_389delinsCT
ENST00000682955.1:n.212-2463_212-2462delinsCT
ENST00000683167.1:c.16_17delinsCT
ENST00000683188.1:c.343-1673_343-1672delinsCT
ENST00000683300.1:c.109+3458_109+3459delinsCT ENSP00000507630.1:n.109+3458_109+3459delinsCT
ENST00000683328.1:c.109+3458_109+3459delinsCT ENSP00000508096.1:n.109+3458_109+3459delinsCT
ENST00000683380.1:n.336_337delinsCT
ENST00000683398.1:c.16_17delinsCT
ENST00000683551.1:c.109+1601_109+1602delinsCT
ENST00000683828.1:c.525+1601_525+1602delinsCT
ENST00000684259.1:n.523_524delinsCT
ENST00000684549.1:n.368-1673_368-1672delinsCT
ENST00000684554.1:c.16_17delinsCT
ENST00000261534.9:c.672_673delinsCT MANE Select ENSP00000261534.4:p.Pro224=
ENST00000261534.8:c.672_673delinsCT ENSP00000261534.4:p.Pro224=
ENST00000452340.7:n.695_696delinsCT
ENST00000553863.5:n.336_337delinsCT
ENST00000554948.1:c.399_400delinsCT ENSP00000452060.1:p.Pro133=
ENST00000555675.5:n.388_389delinsCT
ENST00000556326.5:c.*338_*339delinsCT ENSP00000450630.1:n.*338_*339delinsCT
ENST00000557289.1:c.56-1673_56-1672delinsCT ENSP00000451115.1:n.56-1673_56-1672delinsCT
NM_013382.5:c.672_673delinsCT , LRG_844t1:c.672_673delinsCT NP_037514.2:p.Pro224=
XM_011536675.1:c.672_673delinsCT XP_011534977.1:p.Pro224=
XM_011536676.1:c.339_340delinsCT XP_011534978.1:p.Pro113=
XM_011536677.1:c.547+3458_547+3459delinsCT XP_011534979.1:n.547+3458_547+3459delinsCT
XM_011536678.1:c.672_673delinsCT XP_011534980.1:p.Pro224=
XM_011536679.1:c.-90-1673_-90-1672delinsCT XP_011534981.1:n.-90-1673_-90-1672delinsCT
XM_011536680.1:c.672_673delinsCT XP_011534982.1:p.Pro224=
XR_943416.1:n.875_876delinsCT
XM_011536675.2:c.672_673delinsCT XP_011534977.1:p.Pro224=
XM_011536676.2:c.339_340delinsCT XP_011534978.1:p.Pro113=
XM_011536677.3:c.547+3458_547+3459delinsCT XP_011534979.1:n.547+3458_547+3459delinsCT
XR_001750279.1:n.872_873delinsCT
XR_001750282.1:n.876_877delinsCT
XR_943416.3:n.873_874delinsCT
NM_013382.6:c.672_673delinsCT NP_037514.2:p.Pro224=
NM_013382.7:c.672_673delinsCT MANE Select NP_037514.2:p.Pro224=