Canonical Allele Identifier: CA16619886
Gene: POMT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 422818
ClinVar RCV Id: RCV000481157
dbSNP Id: rs1064796019

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77298688del , CM000676.2:g.77298688del GRCh38
NC_000014.8:g.77765031del , CM000676.1:g.77765031del GRCh37
NC_000014.7:g.76834784del NCBI36
NG_008897.1:g.27195del , LRG_844:g.27195del

Transcript Alleles

HGVS Amino-acid change
ENST00000556394.2:c.547+1del ENSP00000451967.2:n.547+1del
ENST00000557289.2:c.304+1del
ENST00000682247.1:c.1006+1del ENSP00000507213.1:n.1006+1del
ENST00000682382.1:c.578+1del
ENST00000682395.1:n.735+1del
ENST00000682459.1:n.670+1del
ENST00000682467.1:c.1006+1del ENSP00000508062.1:n.1006+1del
ENST00000682795.1:c.1006+1del ENSP00000507574.1:n.1006+1del
ENST00000682895.1:n.722+1del
ENST00000682955.1:n.294+1del
ENST00000683188.1:c.532+1del
ENST00000683300.1:c.110-2415del ENSP00000507630.1:n.110-2415del
ENST00000683328.1:c.109+6004del ENSP00000508096.1:n.109+6004del
ENST00000683380.1:n.670+1del
ENST00000683828.1:c.715+1del
ENST00000684259.1:n.857+1del
ENST00000684549.1:n.557+1del
ENST00000684554.1:c.243+1del
ENST00000261534.9:c.1006+1del MANE Select ENSP00000261534.4:n.1006+1del
ENST00000261534.8:c.1006+1del ENSP00000261534.4:n.1006+1del
ENST00000452340.7:n.1029+1del
ENST00000554767.5:n.1792+1del
ENST00000557289.1:c.245+1del ENSP00000451115.1:n.245+1del
NM_013382.5:c.1006+1del , LRG_844t1:c.1006+1del NP_037514.2:n.1006+1del
XM_011536675.1:c.1006+1del XP_011534977.1:n.1006+1del
XM_011536676.1:c.673+1del XP_011534978.1:n.673+1del
XM_011536677.1:c.548-2415del XP_011534979.1:n.548-2415del
XM_011536678.1:c.1006+1del XP_011534980.1:n.1006+1del
XM_011536679.1:c.100+1del XP_011534981.1:n.100+1del
XM_011536680.1:c.1006+1del XP_011534982.1:n.1006+1del
XR_943416.1:n.1209+1del
XM_011536675.2:c.1006+1del XP_011534977.1:n.1006+1del
XM_011536676.2:c.673+1del XP_011534978.1:n.673+1del
XM_011536677.3:c.548-2415del XP_011534979.1:n.548-2415del
XR_001750279.1:n.1206+1del
XR_001750282.1:n.1210+1del
XR_943416.3:n.1207+1del
NM_013382.6:c.1006+1del NP_037514.2:n.1006+1del
NM_013382.7:c.1006+1del MANE Select NP_037514.2:n.1006+1del