Canonical Allele Identifier: CA2581249151

Gene: PMM2

Linked Data

• gnomAD v4: 16-8848077-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848077C>T , CM000678.2:g.8848077C>T	GRCh38
NC_000016.9:g.8941934C>T , CM000678.1:g.8941934C>T	GRCh37
NC_000016.8:g.8849435C>T	NCBI36
NG_009209.1:g.55265C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4161C>T
ENST00000682393.1:c.*258-1292C>T	ENSP00000506774.1:n.*258-1292C>T
ENST00000683094.1:c.*262-1292C>T	ENSP00000508230.1:n.*262-1292C>T
ENST00000683274.1:c.*180-1292C>T	ENSP00000507262.1:n.*180-1292C>T
ENST00000268261.9:c.*252C>T MANE Select	ENSP00000268261.4:n.*252C>T
ENST00000268261.8:c.*252C>T	ENSP00000268261.4:n.*252C>T
ENST00000562025.1:n.527C>T
ENST00000566540.5:c.*615C>T	ENSP00000454284.1:n.*615C>T
ENST00000566604.5:c.*533C>T	ENSP00000456774.1:n.*533C>T
ENST00000567697.1:n.4161C>T
ENST00000570076.5:c.*451C>T	ENSP00000456961.1:n.*451C>T
NM_000303.2:c.*252C>T	NP_000294.1:n.*252C>T
XM_005255374.3:c.*252C>T	XP_005255431.1:n.*252C>T
XM_011522538.1:c.640-6957C>T	XP_011520840.1:n.640-6957C>T
XM_005255374.4:c.*252C>T	XP_005255431.1:n.*252C>T
NM_000303.3:c.*252C>T MANE Select	NP_000294.1:n.*252C>T