Canonical Allele Identifier: CA220620

Gene: PMM2

Linked Data

• ClinVar Variation Id: 7711
• ClinVar RCV Id: RCV000008150 ; RCV000624449 ; RCV000790706
• dbSNP Id: rs80338701
• ExAC: 16:8904945 C / A
• gnomAD v2: 16-8904945-C-A
• gnomAD v3: 16-8811088-C-A
• gnomAD v4: 16-8811088-C-A
• MyVariant Identifiers: chr16:g.8904945C>A (hg19) ; chr16:g.8811088C>A (hg38)
• PubMed: PMID:9140401 ; PMID:9497260 ; PMID:9781039 ; PMID:10527672 ; PMID:10602363 ; PMID:10854097 ; PMID:11058895 ; PMID:11343337 ; PMID:11409861 ; PMID:12244009 ; PMID:12705494 ; PMID:15844218 ; PMID:20301289 ; PMID:20638314 ; PMID:22838182 ; PMID:23430838 ; PMID:23891399 ; PMID:24498599 ; PMID:26014514 ; PMID:26488408 ; PMID:26805780 ; PMID:28373276 ; PMID:28425223

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8811088C>A , CM000678.2:g.8811088C>A	GRCh38
NC_000016.9:g.8904945C>A , CM000678.1:g.8904945C>A	GRCh37
NC_000016.8:g.8812446C>A	NCBI36
NG_009209.1:g.18276C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3525C>A
ENST00000682008.1:c.357C>A	ENSP00000507849.1:p.Phe119Leu
ENST00000682393.1:c.188C>A	ENSP00000506774.1:p.Ser63Ter
ENST00000683094.1:c.*70-550C>A	ENSP00000508230.1:n.*70-550C>A
ENST00000683274.1:c.348-550C>A	ENSP00000507262.1:n.348-550C>A
ENST00000683435.1:c.*344-550C>A	ENSP00000508092.1:n.*344-550C>A
ENST00000268261.9:c.357C>A MANE Select	ENSP00000268261.4:p.Phe119Leu
ENST00000268261.8:c.357C>A	ENSP00000268261.4:p.Phe119Leu
ENST00000562318.5:c.*79C>A	ENSP00000454395.1:n.*79C>A
ENST00000564069.1:c.328C>A
ENST00000565221.5:c.188C>A	ENSP00000457932.1:p.Ser63Ter
ENST00000565896.5:c.*155C>A	ENSP00000456024.1:n.*155C>A
ENST00000566540.5:c.*70-550C>A	ENSP00000454284.1:n.*70-550C>A
ENST00000566604.5:c.348-550C>A	ENSP00000456774.1:n.348-550C>A
ENST00000566983.5:c.276C>A	ENSP00000457956.1:p.Phe92Leu
ENST00000567697.1:n.3525C>A
ENST00000568602.5:c.*210C>A	ENSP00000455066.1:n.*210C>A
ENST00000569958.5:c.179-554C>A	ENSP00000456302.1:n.179-554C>A
ENST00000570076.5:c.179-550C>A	ENSP00000456961.1:n.179-550C>A
ENST00000570134.5:c.*70-550C>A	ENSP00000456275.1:n.*70-550C>A
NM_000303.2:c.357C>A	NP_000294.1:p.Phe119Leu
XM_005255372.3:c.357C>A	XP_005255429.1:p.Phe119Leu
XM_005255373.3:c.108C>A	XP_005255430.1:p.Phe36Leu
XM_005255374.3:c.108C>A	XP_005255431.1:p.Phe36Leu
XM_011522538.1:c.357C>A	XP_011520840.1:p.Phe119Leu
XM_011522539.1:c.-19C>A	XP_011520841.1:n.-19C>A
XM_005255374.4:c.108C>A	XP_005255431.1:p.Phe36Leu
NM_000303.3:c.357C>A MANE Select	NP_000294.1:p.Phe119Leu