Canonical Allele Identifier: CA2631646278

Gene: PMM2

Linked Data

• gnomAD v4: 16-8848104-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848104G>T , CM000678.2:g.8848104G>T	GRCh38
NC_000016.9:g.8941961G>T , CM000678.1:g.8941961G>T	GRCh37
NC_000016.8:g.8849462G>T	NCBI36
NG_009209.1:g.55292G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4188G>T
ENST00000682393.1:c.*258-1265G>T	ENSP00000506774.1:n.*258-1265G>T
ENST00000683094.1:c.*262-1265G>T	ENSP00000508230.1:n.*262-1265G>T
ENST00000683274.1:c.*180-1265G>T	ENSP00000507262.1:n.*180-1265G>T
ENST00000268261.9:c.*279G>T MANE Select	ENSP00000268261.4:n.*279G>T
ENST00000268261.8:c.*279G>T	ENSP00000268261.4:n.*279G>T
ENST00000562025.1:n.554G>T
ENST00000566540.5:c.*642G>T	ENSP00000454284.1:n.*642G>T
ENST00000566604.5:c.*560G>T	ENSP00000456774.1:n.*560G>T
ENST00000567697.1:n.4188G>T
ENST00000570076.5:c.*478G>T	ENSP00000456961.1:n.*478G>T
NM_000303.2:c.*279G>T	NP_000294.1:n.*279G>T
XM_005255374.3:c.*279G>T	XP_005255431.1:n.*279G>T
XM_011522538.1:c.640-6930G>T	XP_011520840.1:n.640-6930G>T
XM_005255374.4:c.*279G>T	XP_005255431.1:n.*279G>T
NM_000303.3:c.*279G>T MANE Select	NP_000294.1:n.*279G>T