Canonical Allele Identifier: CA2580092092

Gene: PMM2

Linked Data

• ClinVar Variation Id: 2099388
• ClinVar RCV Id: RCV003021701

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8804785_8804786del , CM000678.2:g.8804785_8804786del	GRCh38
NC_000016.9:g.8898642_8898643del , CM000678.1:g.8898642_8898643del	GRCh37
NC_000016.8:g.8806143_8806144del	NCBI36
NG_009209.1:g.11973_11974del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.197_198del	ENSP00000507849.1:p.Tyr66CysfsTer18
ENST00000682393.1:c.178+2875_178+2876del	ENSP00000506774.1:n.178+2875_178+2876del
ENST00000683094.1:c.179-1531_179-1530del	ENSP00000508230.1:n.179-1531_179-1530del
ENST00000683274.1:c.197_198del	ENSP00000507262.1:p.Tyr66CysfsTer18
ENST00000683435.1:c.*193_*194del	ENSP00000508092.1:n.*193_*194del
ENST00000268261.9:c.197_198del MANE Select	ENSP00000268261.4:p.Tyr66CysfsTer18
ENST00000268261.8:c.197_198del	ENSP00000268261.4:p.Tyr66CysfsTer18
ENST00000562318.5:c.179-1531_179-1530del	ENSP00000454395.1:n.179-1531_179-1530del
ENST00000562448.1:n.220-1531_220-1530del
ENST00000564030.5:n.259_260del
ENST00000564069.1:c.168_169del
ENST00000565221.5:c.178+2875_178+2876del	ENSP00000457932.1:n.178+2875_178+2876del
ENST00000565896.5:c.*145+2396_*145+2397del	ENSP00000456024.1:n.*145+2396_*145+2397del
ENST00000566540.5:c.179-1531_179-1530del	ENSP00000454284.1:n.179-1531_179-1530del
ENST00000566604.5:c.197_198del	ENSP00000456774.1:p.Tyr66CysfsTer18
ENST00000566983.5:c.116_117del	ENSP00000457956.1:p.Tyr39CysfsTer18
ENST00000568602.5:c.*50_*51del	ENSP00000455066.1:n.*50_*51del
ENST00000569958.5:c.178+2875_178+2876del	ENSP00000456302.1:n.178+2875_178+2876del
ENST00000570076.5:c.178+2875_178+2876del	ENSP00000456961.1:n.178+2875_178+2876del
ENST00000570134.5:c.179-1531_179-1530del	ENSP00000456275.1:n.179-1531_179-1530del
NM_000303.2:c.197_198del	NP_000294.1:p.Tyr66CysfsTer18
XM_005255372.3:c.197_198del	XP_005255429.1:p.Tyr66CysfsTer18
XM_005255373.3:c.7-1531_7-1530del	XP_005255430.1:n.7-1531_7-1530del
XM_005255374.3:c.7-1531_7-1530del	XP_005255431.1:n.7-1531_7-1530del
XM_011522538.1:c.197_198del	XP_011520840.1:p.Tyr66CysfsTer18
XM_011522539.1:c.-29+2875_-29+2876del	XP_011520841.1:n.-29+2875_-29+2876del
XM_005255374.4:c.7-1531_7-1530del	XP_005255431.1:n.7-1531_7-1530del
NM_000303.3:c.197_198del MANE Select	NP_000294.1:p.Tyr66CysfsTer18