Canonical Allele Identifier: CA277500468

Gene: PMM2

Linked Data

• ClinVar Variation Id: 3215839
• ClinVar RCV Id: RCV004509635
• dbSNP Id: rs145384164
• gnomAD v3: 16-8847811-C-G
• gnomAD v4: 16-8847811-C-G
• MyVariant Identifiers: chr16:g.8941668C>G (hg19) ; chr16:g.8847811C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847811C>G , CM000678.2:g.8847811C>G	GRCh38
NC_000016.9:g.8941668C>G , CM000678.1:g.8941668C>G	GRCh37
NC_000016.8:g.8849169C>G	NCBI36
NG_009209.1:g.54999C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3895C>G
ENST00000682393.1:c.*258-1558C>G	ENSP00000506774.1:n.*258-1558C>G
ENST00000683094.1:c.*262-1558C>G	ENSP00000508230.1:n.*262-1558C>G
ENST00000683274.1:c.*180-1558C>G	ENSP00000507262.1:n.*180-1558C>G
ENST00000683435.1:c.*623C>G	ENSP00000508092.1:n.*623C>G
ENST00000268261.9:c.727C>G MANE Select	ENSP00000268261.4:p.Leu243Val
ENST00000268261.8:c.727C>G	ENSP00000268261.4:p.Leu243Val
ENST00000562025.1:n.261C>G
ENST00000562318.5:c.*449C>G	ENSP00000454395.1:n.*449C>G
ENST00000565221.5:c.*345C>G	ENSP00000457932.1:n.*345C>G
ENST00000566540.5:c.*349C>G	ENSP00000454284.1:n.*349C>G
ENST00000566604.5:c.*267C>G	ENSP00000456774.1:n.*267C>G
ENST00000566983.5:c.646C>G	ENSP00000457956.1:p.Leu216Val
ENST00000567697.1:n.3895C>G
ENST00000569958.5:c.454C>G	ENSP00000456302.1:p.Leu152Val
ENST00000570076.5:c.*185C>G	ENSP00000456961.1:n.*185C>G
NM_000303.2:c.727C>G	NP_000294.1:p.Leu243Val
XM_005255374.3:c.478C>G	XP_005255431.1:p.Leu160Val
XM_011522538.1:c.640-7223C>G	XP_011520840.1:n.640-7223C>G
XM_005255374.4:c.478C>G	XP_005255431.1:p.Leu160Val
NM_000303.3:c.727C>G MANE Select	NP_000294.1:p.Leu243Val