Canonical Allele Identifier: CA493489705

Gene: PMM2

Linked Data

• dbSNP Id: rs1567172202
• gnomAD v4: 16-8847940-C-T
• MyVariant Identifiers: chr16:g.8941797C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847940C>T , CM000678.2:g.8847940C>T	GRCh38
NC_000016.9:g.8941797C>T , CM000678.1:g.8941797C>T	GRCh37
NC_000016.8:g.8849298C>T	NCBI36
NG_009209.1:g.55128C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4024C>T
ENST00000682393.1:c.*258-1429C>T	ENSP00000506774.1:n.*258-1429C>T
ENST00000683094.1:c.*262-1429C>T	ENSP00000508230.1:n.*262-1429C>T
ENST00000683274.1:c.*180-1429C>T	ENSP00000507262.1:n.*180-1429C>T
ENST00000683435.1:c.*752C>T	ENSP00000508092.1:n.*752C>T
ENST00000268261.9:c.*115C>T MANE Select	ENSP00000268261.4:n.*115C>T
ENST00000268261.8:c.*115C>T	ENSP00000268261.4:n.*115C>T
ENST00000562025.1:n.390C>T
ENST00000562318.5:c.*578C>T	ENSP00000454395.1:n.*578C>T
ENST00000565221.5:c.*474C>T	ENSP00000457932.1:n.*474C>T
ENST00000566540.5:c.*478C>T	ENSP00000454284.1:n.*478C>T
ENST00000566604.5:c.*396C>T	ENSP00000456774.1:n.*396C>T
ENST00000567697.1:n.4024C>T
ENST00000569958.5:c.*115C>T	ENSP00000456302.1:n.*115C>T
ENST00000570076.5:c.*314C>T	ENSP00000456961.1:n.*314C>T
NM_000303.2:c.*115C>T	NP_000294.1:n.*115C>T
XM_005255374.3:c.*115C>T	XP_005255431.1:n.*115C>T
XM_011522538.1:c.640-7094C>T	XP_011520840.1:n.640-7094C>T
XM_005255374.4:c.*115C>T	XP_005255431.1:n.*115C>T
NM_000303.3:c.*115C>T MANE Select	NP_000294.1:n.*115C>T