Canonical Allele Identifier: CA974429329

Gene: PMM2

Linked Data

• gnomAD v3: 16-8848057-T-TCC
• gnomAD v4: 16-8848057-T-TCC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848060_8848061dup , CM000678.2:g.8848060_8848061dup	GRCh38
NC_000016.9:g.8941917_8941918dup , CM000678.1:g.8941917_8941918dup	GRCh37
NC_000016.8:g.8849418_8849419dup	NCBI36
NG_009209.1:g.55248_55249dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4144_4145dup
ENST00000682393.1:c.*258-1309_*258-1308dup	ENSP00000506774.1:n.*258-1309_*258-1308dup
ENST00000683094.1:c.*262-1309_*262-1308dup	ENSP00000508230.1:n.*262-1309_*262-1308dup
ENST00000683274.1:c.*180-1309_*180-1308dup	ENSP00000507262.1:n.*180-1309_*180-1308dup
ENST00000268261.9:c.*235_*236dup MANE Select	ENSP00000268261.4:n.*235_*236dup
ENST00000268261.8:c.*235_*236dup	ENSP00000268261.4:n.*235_*236dup
ENST00000562025.1:n.510_511dup
ENST00000566540.5:c.*598_*599dup	ENSP00000454284.1:n.*598_*599dup
ENST00000566604.5:c.*516_*517dup	ENSP00000456774.1:n.*516_*517dup
ENST00000567697.1:n.4144_4145dup
ENST00000570076.5:c.*434_*435dup	ENSP00000456961.1:n.*434_*435dup
NM_000303.2:c.*235_*236dup	NP_000294.1:n.*235_*236dup
XM_005255374.3:c.*235_*236dup	XP_005255431.1:n.*235_*236dup
XM_011522538.1:c.640-6974_640-6973dup	XP_011520840.1:n.640-6974_640-6973dup
XM_005255374.4:c.*235_*236dup	XP_005255431.1:n.*235_*236dup
NM_000303.3:c.*235_*236dup MANE Select	NP_000294.1:n.*235_*236dup