Canonical Allele Identifier: CA725561804
Gene: PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs1194098808

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8847548_8847550del , CM000678.2:g.8847548_8847550del GRCh38
NC_000016.9:g.8941405_8941407del , CM000678.1:g.8941405_8941407del GRCh37
NC_000016.8:g.8848906_8848908del NCBI36
NG_009209.1:g.54736_54738del

Transcript Alleles

HGVS Amino-acid Change
ENST00000567697.2:n.3808-176_3808-174del
ENST00000682393.1:c.*258-1821_*258-1819del ENSP00000506774.1:n.*258-1821_*258-1819del
ENST00000683094.1:c.*262-1821_*262-1819del ENSP00000508230.1:n.*262-1821_*262-1819del
ENST00000683274.1:c.*180-1821_*180-1819del ENSP00000507262.1:n.*180-1821_*180-1819del
ENST00000683435.1:c.*536-176_*536-174del ENSP00000508092.1:n.*536-176_*536-174del
ENST00000268261.9:c.640-176_640-174del MANE Select ENSP00000268261.4:n.640-176_640-174del
ENST00000268261.8:c.640-176_640-174del ENSP00000268261.4:n.640-176_640-174del
ENST00000562025.1:n.174-176_174-174del
ENST00000562318.5:c.*362-176_*362-174del ENSP00000454395.1:n.*362-176_*362-174del
ENST00000565221.5:c.*258-176_*258-174del ENSP00000457932.1:n.*258-176_*258-174del
ENST00000566540.5:c.*262-176_*262-174del ENSP00000454284.1:n.*262-176_*262-174del
ENST00000566604.5:c.*180-176_*180-174del ENSP00000456774.1:n.*180-176_*180-174del
ENST00000566983.5:c.559-176_559-174del ENSP00000457956.1:n.559-176_559-174del
ENST00000567697.1:n.3808-176_3808-174del
ENST00000569958.5:c.367-176_367-174del ENSP00000456302.1:n.367-176_367-174del
ENST00000570076.5:c.*98-176_*98-174del ENSP00000456961.1:n.*98-176_*98-174del
NM_000303.2:c.640-176_640-174del NP_000294.1:n.640-176_640-174del
XM_005255374.3:c.391-176_391-174del XP_005255431.1:n.391-176_391-174del
XM_011522538.1:c.640-7486_640-7484del XP_011520840.1:n.640-7486_640-7484del
XM_005255374.4:c.391-176_391-174del XP_005255431.1:n.391-176_391-174del
NM_000303.3:c.640-176_640-174del MANE Select NP_000294.1:n.640-176_640-174del