Canonical Allele Identifier: CA10606595

Gene: PMM2

Linked Data

• ClinVar Variation Id: 289916
• ClinVar RCV Id: RCV000395684
• dbSNP Id: rs886044305
• gnomAD v2: 16-8904977-C-G
• gnomAD v4: 16-8811120-C-G
• MyVariant Identifiers: chr16:g.8904977C>G (hg19) ; chr16:g.8811120C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8811120C>G , CM000678.2:g.8811120C>G	GRCh38
NC_000016.9:g.8904977C>G , CM000678.1:g.8904977C>G	GRCh37
NC_000016.8:g.8812478C>G	NCBI36
NG_009209.1:g.18308C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3557C>G
ENST00000682008.1:c.389C>G	ENSP00000507849.1:p.Ser130Cys
ENST00000682393.1:c.*7C>G	ENSP00000506774.1:n.*7C>G
ENST00000683094.1:c.*70-518C>G	ENSP00000508230.1:n.*70-518C>G
ENST00000683274.1:c.348-518C>G	ENSP00000507262.1:n.348-518C>G
ENST00000683435.1:c.*344-518C>G	ENSP00000508092.1:n.*344-518C>G
ENST00000268261.9:c.389C>G MANE Select	ENSP00000268261.4:p.Ser130Cys
ENST00000268261.8:c.389C>G	ENSP00000268261.4:p.Ser130Cys
ENST00000562318.5:c.*111C>G	ENSP00000454395.1:n.*111C>G
ENST00000564069.1:c.360C>G
ENST00000565221.5:c.*7C>G	ENSP00000457932.1:n.*7C>G
ENST00000565896.5:c.*187C>G	ENSP00000456024.1:n.*187C>G
ENST00000566540.5:c.*70-518C>G	ENSP00000454284.1:n.*70-518C>G
ENST00000566604.5:c.348-518C>G	ENSP00000456774.1:n.348-518C>G
ENST00000566983.5:c.308C>G	ENSP00000457956.1:p.Ser103Cys
ENST00000567697.1:n.3557C>G
ENST00000569958.5:c.179-522C>G	ENSP00000456302.1:n.179-522C>G
ENST00000570076.5:c.179-518C>G	ENSP00000456961.1:n.179-518C>G
ENST00000570134.5:c.*70-518C>G	ENSP00000456275.1:n.*70-518C>G
NM_000303.2:c.389C>G	NP_000294.1:p.Ser130Cys
XM_005255372.3:c.389C>G	XP_005255429.1:p.Ser130Cys
XM_005255373.3:c.140C>G	XP_005255430.1:p.Ser47Cys
XM_005255374.3:c.140C>G	XP_005255431.1:p.Ser47Cys
XM_011522538.1:c.389C>G	XP_011520840.1:p.Ser130Cys
XM_011522539.1:c.14C>G	XP_011520841.1:p.Ser5Cys
XM_005255374.4:c.140C>G	XP_005255431.1:p.Ser47Cys
NM_000303.3:c.389C>G MANE Select	NP_000294.1:p.Ser130Cys