Canonical Allele Identifier: CA394689340

Gene: PMM2

Linked Data

• MyVariant Identifiers: chr16:g.8941584G>A (hg19) ; chr16:g.8847727G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847727G>A , CM000678.2:g.8847727G>A	GRCh38
NC_000016.9:g.8941584G>A , CM000678.1:g.8941584G>A	GRCh37
NC_000016.8:g.8849085G>A	NCBI36
NG_009209.1:g.54915G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3811G>A
ENST00000682393.1:c.*258-1642G>A	ENSP00000506774.1:n.*258-1642G>A
ENST00000683094.1:c.*262-1642G>A	ENSP00000508230.1:n.*262-1642G>A
ENST00000683274.1:c.*180-1642G>A	ENSP00000507262.1:n.*180-1642G>A
ENST00000683435.1:c.*539G>A	ENSP00000508092.1:n.*539G>A
ENST00000268261.9:c.643G>A MANE Select	ENSP00000268261.4:p.Gly215Ser
ENST00000268261.8:c.643G>A	ENSP00000268261.4:p.Gly215Ser
ENST00000562025.1:n.177G>A
ENST00000562318.5:c.*365G>A	ENSP00000454395.1:n.*365G>A
ENST00000565221.5:c.*261G>A	ENSP00000457932.1:n.*261G>A
ENST00000566540.5:c.*265G>A	ENSP00000454284.1:n.*265G>A
ENST00000566604.5:c.*183G>A	ENSP00000456774.1:n.*183G>A
ENST00000566983.5:c.562G>A	ENSP00000457956.1:p.Gly188Ser
ENST00000567697.1:n.3811G>A
ENST00000569958.5:c.370G>A	ENSP00000456302.1:p.Gly124Ser
ENST00000570076.5:c.*101G>A	ENSP00000456961.1:n.*101G>A
NM_000303.2:c.643G>A	NP_000294.1:p.Gly215Ser
XM_005255374.3:c.394G>A	XP_005255431.1:p.Gly132Ser
XM_011522538.1:c.640-7307G>A	XP_011520840.1:n.640-7307G>A
XM_005255374.4:c.394G>A	XP_005255431.1:p.Gly132Ser
NM_000303.3:c.643G>A MANE Select	NP_000294.1:p.Gly215Ser