Canonical Allele Identifier: CA2625843894
Gene: POMT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2954487
ClinVar RCV Id: RCV003813710

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77286734del , CM000676.2:g.77286734del GRCh38
NC_000014.8:g.77753077del , CM000676.1:g.77753077del GRCh37
NC_000014.7:g.76822830del NCBI36
NG_008897.1:g.39149del , LRG_844:g.39149del

Transcript Alleles

HGVS Amino-acid Change
ENST00000556394.2:c.873+10del ENSP00000451967.2:n.873+10del
ENST00000682247.1:c.1332+10del ENSP00000507213.1:n.1332+10del
ENST00000682382.1:c.904+10del
ENST00000682395.1:n.1510+10del
ENST00000682459.1:n.1035+10del
ENST00000682467.1:c.1332+10del ENSP00000508062.1:n.1332+10del
ENST00000682795.1:c.1332+10del ENSP00000507574.1:n.1332+10del
ENST00000682895.1:n.1048+10del
ENST00000682955.1:n.620+10del
ENST00000683188.1:c.1307+10del
ENST00000683380.1:n.996+10del
ENST00000683828.1:c.1041+10del
ENST00000684259.1:n.1183+10del
ENST00000684444.1:c.83+6del
ENST00000684549.1:n.883+10del
ENST00000261534.9:c.1332+10del MANE Select ENSP00000261534.4:n.1332+10del
ENST00000261534.8:c.1332+10del ENSP00000261534.4:n.1332+10del
ENST00000452340.7:n.1355+10del
ENST00000553880.5:n.203+10del
ENST00000554767.5:n.2118+10del
ENST00000554884.5:n.324+10del
ENST00000556404.1:n.466+10del
ENST00000557675.5:n.422+10del
NM_013382.5:c.1332+10del , LRG_844t1:c.1332+10del NP_037514.2:n.1332+10del
XM_011536675.1:c.1332+10del XP_011534977.1:n.1332+10del
XM_011536676.1:c.999+10del XP_011534978.1:n.999+10del
XM_011536677.1:c.873+10del XP_011534979.1:n.873+10del
XM_011536678.1:c.1332+10del XP_011534980.1:n.1332+10del
XM_011536679.1:c.426+10del XP_011534981.1:n.426+10del
XR_943416.1:n.1535+10del
XM_011536675.2:c.1332+10del XP_011534977.1:n.1332+10del
XM_011536676.2:c.999+10del XP_011534978.1:n.999+10del
XM_011536677.3:c.873+10del XP_011534979.1:n.873+10del
XR_001750279.1:n.1532+10del
XR_001750282.1:n.1985+10del
XR_943416.3:n.1533+10del
NM_013382.6:c.1332+10del NP_037514.2:n.1332+10del
NM_013382.7:c.1332+10del MANE Select NP_037514.2:n.1332+10del