Canonical Allele Identifier: CA621172699

Gene: PMM2

Linked Data

• gnomAD v2: 16-8941914-T-TC
• gnomAD v3: 16-8848057-T-TC
• gnomAD v4: 16-8848057-T-TC
• MyVariant Identifiers: chr16:g.8941914_8941915insC (hg19) ; chr16:g.8848057_8848058insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848061dup , CM000678.2:g.8848061dup	GRCh38
NC_000016.9:g.8941918dup , CM000678.1:g.8941918dup	GRCh37
NC_000016.8:g.8849419dup	NCBI36
NG_009209.1:g.55249dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4145dup
ENST00000682393.1:c.*258-1308dup	ENSP00000506774.1:n.*258-1308dup
ENST00000683094.1:c.*262-1308dup	ENSP00000508230.1:n.*262-1308dup
ENST00000683274.1:c.*180-1308dup	ENSP00000507262.1:n.*180-1308dup
ENST00000268261.9:c.*236dup MANE Select	ENSP00000268261.4:n.*236dup
ENST00000268261.8:c.*236dup	ENSP00000268261.4:n.*236dup
ENST00000562025.1:n.511dup
ENST00000566540.5:c.*599dup	ENSP00000454284.1:n.*599dup
ENST00000566604.5:c.*517dup	ENSP00000456774.1:n.*517dup
ENST00000567697.1:n.4145dup
ENST00000570076.5:c.*435dup	ENSP00000456961.1:n.*435dup
NM_000303.2:c.*236dup	NP_000294.1:n.*236dup
XM_005255374.3:c.*236dup	XP_005255431.1:n.*236dup
XM_011522538.1:c.640-6973dup	XP_011520840.1:n.640-6973dup
XM_005255374.4:c.*236dup	XP_005255431.1:n.*236dup
NM_000303.3:c.*236dup MANE Select	NP_000294.1:n.*236dup