Canonical Allele Identifier: CA7894230

Gene: PMM2

Linked Data

• dbSNP Id: rs200464135
• ExAC: 16:8941700 C / A
• gnomAD v2: 16-8941700-C-A
• gnomAD v4: 16-8847843-C-A
• MyVariant Identifiers: chr16:g.8941700C>A (hg19) ; chr16:g.8847843C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847843C>A , CM000678.2:g.8847843C>A	GRCh38
NC_000016.9:g.8941700C>A , CM000678.1:g.8941700C>A	GRCh37
NC_000016.8:g.8849201C>A	NCBI36
NG_009209.1:g.55031C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3927C>A
ENST00000682393.1:c.*258-1526C>A	ENSP00000506774.1:n.*258-1526C>A
ENST00000683094.1:c.*262-1526C>A	ENSP00000508230.1:n.*262-1526C>A
ENST00000683274.1:c.*180-1526C>A	ENSP00000507262.1:n.*180-1526C>A
ENST00000683435.1:c.*655C>A	ENSP00000508092.1:n.*655C>A
ENST00000268261.9:c.*18C>A MANE Select	ENSP00000268261.4:n.*18C>A
ENST00000268261.8:c.*18C>A	ENSP00000268261.4:n.*18C>A
ENST00000562025.1:n.293C>A
ENST00000562318.5:c.*481C>A	ENSP00000454395.1:n.*481C>A
ENST00000565221.5:c.*377C>A	ENSP00000457932.1:n.*377C>A
ENST00000566540.5:c.*381C>A	ENSP00000454284.1:n.*381C>A
ENST00000566604.5:c.*299C>A	ENSP00000456774.1:n.*299C>A
ENST00000566983.5:c.*18C>A	ENSP00000457956.1:n.*18C>A
ENST00000567697.1:n.3927C>A
ENST00000569958.5:c.*18C>A	ENSP00000456302.1:n.*18C>A
ENST00000570076.5:c.*217C>A	ENSP00000456961.1:n.*217C>A
NM_000303.2:c.*18C>A	NP_000294.1:n.*18C>A
XM_005255374.3:c.*18C>A	XP_005255431.1:n.*18C>A
XM_011522538.1:c.640-7191C>A	XP_011520840.1:n.640-7191C>A
XM_005255374.4:c.*18C>A	XP_005255431.1:n.*18C>A
NM_000303.3:c.*18C>A MANE Select	NP_000294.1:n.*18C>A