Canonical Allele Identifier: CA725562433

Gene: PMM2

Linked Data

• dbSNP Id: rs1340314605
• gnomAD v3: 16-8848019-C-G
• gnomAD v4: 16-8848019-C-G
• MyVariant Identifiers: chr16:g.8941876C>G (hg19) ; chr16:g.8848019C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848019C>G , CM000678.2:g.8848019C>G	GRCh38
NC_000016.9:g.8941876C>G , CM000678.1:g.8941876C>G	GRCh37
NC_000016.8:g.8849377C>G	NCBI36
NG_009209.1:g.55207C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4103C>G
ENST00000682393.1:c.*258-1350C>G	ENSP00000506774.1:n.*258-1350C>G
ENST00000683094.1:c.*262-1350C>G	ENSP00000508230.1:n.*262-1350C>G
ENST00000683274.1:c.*180-1350C>G	ENSP00000507262.1:n.*180-1350C>G
ENST00000268261.9:c.*194C>G MANE Select	ENSP00000268261.4:n.*194C>G
ENST00000268261.8:c.*194C>G	ENSP00000268261.4:n.*194C>G
ENST00000562025.1:n.469C>G
ENST00000562318.5:c.*657C>G	ENSP00000454395.1:n.*657C>G
ENST00000565221.5:c.*553C>G	ENSP00000457932.1:n.*553C>G
ENST00000566540.5:c.*557C>G	ENSP00000454284.1:n.*557C>G
ENST00000566604.5:c.*475C>G	ENSP00000456774.1:n.*475C>G
ENST00000567697.1:n.4103C>G
ENST00000569958.5:c.*194C>G	ENSP00000456302.1:n.*194C>G
ENST00000570076.5:c.*393C>G	ENSP00000456961.1:n.*393C>G
NM_000303.2:c.*194C>G	NP_000294.1:n.*194C>G
XM_005255374.3:c.*194C>G	XP_005255431.1:n.*194C>G
XM_011522538.1:c.640-7015C>G	XP_011520840.1:n.640-7015C>G
XM_005255374.4:c.*194C>G	XP_005255431.1:n.*194C>G
NM_000303.3:c.*194C>G MANE Select	NP_000294.1:n.*194C>G