Canonical Allele Identifier: CA2206158334

Gene: PMM2

Linked Data

• dbSNP Id: rs2060940516
• gnomAD v4: 16-8848099-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848100dup , CM000678.2:g.8848100dup	GRCh38
NC_000016.9:g.8941957dup , CM000678.1:g.8941957dup	GRCh37
NC_000016.8:g.8849458dup	NCBI36
NG_009209.1:g.55288dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4184dup
ENST00000682393.1:c.*258-1269dup	ENSP00000506774.1:n.*258-1269dup
ENST00000683094.1:c.*262-1269dup	ENSP00000508230.1:n.*262-1269dup
ENST00000683274.1:c.*180-1269dup	ENSP00000507262.1:n.*180-1269dup
ENST00000268261.9:c.*275dup MANE Select	ENSP00000268261.4:n.*275dup
ENST00000268261.8:c.*275dup	ENSP00000268261.4:n.*275dup
ENST00000562025.1:n.550dup
ENST00000566540.5:c.*638dup	ENSP00000454284.1:n.*638dup
ENST00000566604.5:c.*556dup	ENSP00000456774.1:n.*556dup
ENST00000567697.1:n.4184dup
ENST00000570076.5:c.*474dup	ENSP00000456961.1:n.*474dup
NM_000303.2:c.*275dup	NP_000294.1:n.*275dup
XM_005255374.3:c.*275dup	XP_005255431.1:n.*275dup
XM_011522538.1:c.640-6934dup	XP_011520840.1:n.640-6934dup
XM_005255374.4:c.*275dup	XP_005255431.1:n.*275dup
NM_000303.3:c.*275dup MANE Select	NP_000294.1:n.*275dup