Canonical Allele Identifier: CA2631646172

Gene: PMM2

Linked Data

• gnomAD v4: 16-8848012-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848012C>A , CM000678.2:g.8848012C>A	GRCh38
NC_000016.9:g.8941869C>A , CM000678.1:g.8941869C>A	GRCh37
NC_000016.8:g.8849370C>A	NCBI36
NG_009209.1:g.55200C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4096C>A
ENST00000682393.1:c.*258-1357C>A	ENSP00000506774.1:n.*258-1357C>A
ENST00000683094.1:c.*262-1357C>A	ENSP00000508230.1:n.*262-1357C>A
ENST00000683274.1:c.*180-1357C>A	ENSP00000507262.1:n.*180-1357C>A
ENST00000268261.9:c.*187C>A MANE Select	ENSP00000268261.4:n.*187C>A
ENST00000268261.8:c.*187C>A	ENSP00000268261.4:n.*187C>A
ENST00000562025.1:n.462C>A
ENST00000562318.5:c.*650C>A	ENSP00000454395.1:n.*650C>A
ENST00000565221.5:c.*546C>A	ENSP00000457932.1:n.*546C>A
ENST00000566540.5:c.*550C>A	ENSP00000454284.1:n.*550C>A
ENST00000566604.5:c.*468C>A	ENSP00000456774.1:n.*468C>A
ENST00000567697.1:n.4096C>A
ENST00000569958.5:c.*187C>A	ENSP00000456302.1:n.*187C>A
ENST00000570076.5:c.*386C>A	ENSP00000456961.1:n.*386C>A
NM_000303.2:c.*187C>A	NP_000294.1:n.*187C>A
XM_005255374.3:c.*187C>A	XP_005255431.1:n.*187C>A
XM_011522538.1:c.640-7022C>A	XP_011520840.1:n.640-7022C>A
XM_005255374.4:c.*187C>A	XP_005255431.1:n.*187C>A
NM_000303.3:c.*187C>A MANE Select	NP_000294.1:n.*187C>A