Canonical Allele Identifier: CA394689368

Gene: PMM2

Linked Data

• gnomAD v4: 16-8847733-G-A
• MyVariant Identifiers: chr16:g.8941590G>A (hg19) ; chr16:g.8847733G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847733G>A , CM000678.2:g.8847733G>A	GRCh38
NC_000016.9:g.8941590G>A , CM000678.1:g.8941590G>A	GRCh37
NC_000016.8:g.8849091G>A	NCBI36
NG_009209.1:g.54921G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3817G>A
ENST00000682393.1:c.*258-1636G>A	ENSP00000506774.1:n.*258-1636G>A
ENST00000683094.1:c.*262-1636G>A	ENSP00000508230.1:n.*262-1636G>A
ENST00000683274.1:c.*180-1636G>A	ENSP00000507262.1:n.*180-1636G>A
ENST00000683435.1:c.*545G>A	ENSP00000508092.1:n.*545G>A
ENST00000268261.9:c.649G>A MANE Select	ENSP00000268261.4:p.Asp217Asn
ENST00000268261.8:c.649G>A	ENSP00000268261.4:p.Asp217Asn
ENST00000562025.1:n.183G>A
ENST00000562318.5:c.*371G>A	ENSP00000454395.1:n.*371G>A
ENST00000565221.5:c.*267G>A	ENSP00000457932.1:n.*267G>A
ENST00000566540.5:c.*271G>A	ENSP00000454284.1:n.*271G>A
ENST00000566604.5:c.*189G>A	ENSP00000456774.1:n.*189G>A
ENST00000566983.5:c.568G>A	ENSP00000457956.1:p.Asp190Asn
ENST00000567697.1:n.3817G>A
ENST00000569958.5:c.376G>A	ENSP00000456302.1:p.Asp126Asn
ENST00000570076.5:c.*107G>A	ENSP00000456961.1:n.*107G>A
NM_000303.2:c.649G>A	NP_000294.1:p.Asp217Asn
XM_005255374.3:c.400G>A	XP_005255431.1:p.Asp134Asn
XM_011522538.1:c.640-7301G>A	XP_011520840.1:n.640-7301G>A
XM_005255374.4:c.400G>A	XP_005255431.1:p.Asp134Asn
NM_000303.3:c.649G>A MANE Select	NP_000294.1:p.Asp217Asn