Canonical Allele Identifier: CA254229

Gene: PMM2

Linked Data

• ClinVar Variation Id: 7707
• ClinVar RCV Id: RCV000008146 ; RCV000724043
• dbSNP Id: rs78290141
• gnomAD v4: 16-8847731-A-T
• MyVariant Identifiers: chr16:g.8941588A>T (hg19) ; chr16:g.8847731A>T (hg38)
• PubMed: PMID:9140401 ; PMID:12905014 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847731A>T , CM000678.2:g.8847731A>T	GRCh38
NC_000016.9:g.8941588A>T , CM000678.1:g.8941588A>T	GRCh37
NC_000016.8:g.8849089A>T	NCBI36
NG_009209.1:g.54919A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3815A>T
ENST00000682393.1:c.*258-1638A>T	ENSP00000506774.1:n.*258-1638A>T
ENST00000683094.1:c.*262-1638A>T	ENSP00000508230.1:n.*262-1638A>T
ENST00000683274.1:c.*180-1638A>T	ENSP00000507262.1:n.*180-1638A>T
ENST00000683435.1:c.*543A>T	ENSP00000508092.1:n.*543A>T
ENST00000268261.9:c.647A>T MANE Select	ENSP00000268261.4:p.Asn216Ile
ENST00000268261.8:c.647A>T	ENSP00000268261.4:p.Asn216Ile
ENST00000562025.1:n.181A>T
ENST00000562318.5:c.*369A>T	ENSP00000454395.1:n.*369A>T
ENST00000565221.5:c.*265A>T	ENSP00000457932.1:n.*265A>T
ENST00000566540.5:c.*269A>T	ENSP00000454284.1:n.*269A>T
ENST00000566604.5:c.*187A>T	ENSP00000456774.1:n.*187A>T
ENST00000566983.5:c.566A>T	ENSP00000457956.1:p.Asn189Ile
ENST00000567697.1:n.3815A>T
ENST00000569958.5:c.374A>T	ENSP00000456302.1:p.Asn125Ile
ENST00000570076.5:c.*105A>T	ENSP00000456961.1:n.*105A>T
NM_000303.2:c.647A>T	NP_000294.1:p.Asn216Ile
XM_005255374.3:c.398A>T	XP_005255431.1:p.Asn133Ile
XM_011522538.1:c.640-7303A>T	XP_011520840.1:n.640-7303A>T
XM_005255374.4:c.398A>T	XP_005255431.1:p.Asn133Ile
NM_000303.3:c.647A>T MANE Select	NP_000294.1:p.Asn216Ile