Canonical Allele Identifier: CA2499223722

Gene: PMM2

Linked Data

• ClinVar Variation Id: 1075469
• ClinVar RCV Id: RCV001389071
• dbSNP Id: rs2141019983

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8806324_8806325del , CM000678.2:g.8806324_8806325del	GRCh38
NC_000016.9:g.8900181_8900182del , CM000678.1:g.8900181_8900182del	GRCh37
NC_000016.8:g.8807682_8807683del	NCBI36
NG_009209.1:g.13512_13513del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.264_265del	ENSP00000507849.1:p.His90SerfsTer3
ENST00000682393.1:c.178+4414_178+4415del	ENSP00000506774.1:n.178+4414_178+4415del
ENST00000683094.1:c.187_188del	ENSP00000508230.1:p.Lys63ValfsTer7
ENST00000683274.1:c.264_265del	ENSP00000507262.1:p.His90SerfsTer3
ENST00000683435.1:c.*260_*261del	ENSP00000508092.1:n.*260_*261del
ENST00000268261.9:c.264_265del MANE Select	ENSP00000268261.4:p.His90SerfsTer3
ENST00000268261.8:c.264_265del	ENSP00000268261.4:p.His90SerfsTer3
ENST00000562318.5:c.187_188del	ENSP00000454395.1:p.Lys63ValfsTer7
ENST00000562448.1:n.228_229del
ENST00000564030.5:n.326_327del
ENST00000564069.1:c.235_236del
ENST00000565221.5:c.178+4414_178+4415del	ENSP00000457932.1:n.178+4414_178+4415del
ENST00000565896.5:c.*145+3935_*145+3936del	ENSP00000456024.1:n.*145+3935_*145+3936del
ENST00000566540.5:c.187_188del	ENSP00000454284.1:p.Lys63ValfsTer7
ENST00000566604.5:c.264_265del	ENSP00000456774.1:p.His90SerfsTer3
ENST00000566983.5:c.183_184del	ENSP00000457956.1:p.His63SerfsTer3
ENST00000568602.5:c.*117_*118del	ENSP00000455066.1:n.*117_*118del
ENST00000569958.5:c.178+4414_178+4415del	ENSP00000456302.1:n.178+4414_178+4415del
ENST00000570076.5:c.178+4414_178+4415del	ENSP00000456961.1:n.178+4414_178+4415del
ENST00000570134.5:c.187_188del	ENSP00000456275.1:p.Lys63ValfsTer7
NM_000303.2:c.264_265del	NP_000294.1:p.His90SerfsTer3
XM_005255372.3:c.264_265del	XP_005255429.1:p.His90SerfsTer3
XM_005255373.3:c.15_16del	XP_005255430.1:p.His7SerfsTer3
XM_005255374.3:c.15_16del	XP_005255431.1:p.His7SerfsTer3
XM_011522538.1:c.264_265del	XP_011520840.1:p.His90SerfsTer3
XM_011522539.1:c.-29+4414_-29+4415del	XP_011520841.1:n.-29+4414_-29+4415del
XM_005255374.4:c.15_16del	XP_005255431.1:p.His7SerfsTer3
NM_000303.3:c.264_265del MANE Select	NP_000294.1:p.His90SerfsTer3