Canonical Allele Identifier: CA493489769

Gene: PMM2

Linked Data

• dbSNP Id: rs1406313026
• gnomAD v3: 16-8847963-T-G
• gnomAD v4: 16-8847963-T-G
• MyVariant Identifiers: chr16:g.8941820T>G (hg19) ; chr16:g.8847963T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847963T>G , CM000678.2:g.8847963T>G	GRCh38
NC_000016.9:g.8941820T>G , CM000678.1:g.8941820T>G	GRCh37
NC_000016.8:g.8849321T>G	NCBI36
NG_009209.1:g.55151T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4047T>G
ENST00000682393.1:c.*258-1406T>G	ENSP00000506774.1:n.*258-1406T>G
ENST00000683094.1:c.*262-1406T>G	ENSP00000508230.1:n.*262-1406T>G
ENST00000683274.1:c.*180-1406T>G	ENSP00000507262.1:n.*180-1406T>G
ENST00000683435.1:c.*775T>G	ENSP00000508092.1:n.*775T>G
ENST00000268261.9:c.*138T>G MANE Select	ENSP00000268261.4:n.*138T>G
ENST00000268261.8:c.*138T>G	ENSP00000268261.4:n.*138T>G
ENST00000562025.1:n.413T>G
ENST00000562318.5:c.*601T>G	ENSP00000454395.1:n.*601T>G
ENST00000565221.5:c.*497T>G	ENSP00000457932.1:n.*497T>G
ENST00000566540.5:c.*501T>G	ENSP00000454284.1:n.*501T>G
ENST00000566604.5:c.*419T>G	ENSP00000456774.1:n.*419T>G
ENST00000567697.1:n.4047T>G
ENST00000569958.5:c.*138T>G	ENSP00000456302.1:n.*138T>G
ENST00000570076.5:c.*337T>G	ENSP00000456961.1:n.*337T>G
NM_000303.2:c.*138T>G	NP_000294.1:n.*138T>G
XM_005255374.3:c.*138T>G	XP_005255431.1:n.*138T>G
XM_011522538.1:c.640-7071T>G	XP_011520840.1:n.640-7071T>G
XM_005255374.4:c.*138T>G	XP_005255431.1:n.*138T>G
NM_000303.3:c.*138T>G MANE Select	NP_000294.1:n.*138T>G