Canonical Allele Identifier: CA7894170

Gene: PMM2

Linked Data

• ClinVar Variation Id: 1190203
• ClinVar RCV Id: RCV001832745 ; RCV001550819
• dbSNP Id: rs113866602
• ExAC: 16:8941535 G / A
• gnomAD v2: 16-8941535-G-A
• gnomAD v3: 16-8847678-G-A
• gnomAD v4: 16-8847678-G-A
• MyVariant Identifiers: chr16:g.8941535G>A (hg19) ; chr16:g.8847678G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847678G>A , CM000678.2:g.8847678G>A	GRCh38
NC_000016.9:g.8941535G>A , CM000678.1:g.8941535G>A	GRCh37
NC_000016.8:g.8849036G>A	NCBI36
NG_009209.1:g.54866G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3808-46G>A
ENST00000682393.1:c.*258-1691G>A	ENSP00000506774.1:n.*258-1691G>A
ENST00000683094.1:c.*262-1691G>A	ENSP00000508230.1:n.*262-1691G>A
ENST00000683274.1:c.*180-1691G>A	ENSP00000507262.1:n.*180-1691G>A
ENST00000683435.1:c.*536-46G>A	ENSP00000508092.1:n.*536-46G>A
ENST00000268261.9:c.640-46G>A MANE Select	ENSP00000268261.4:n.640-46G>A
ENST00000268261.8:c.640-46G>A	ENSP00000268261.4:n.640-46G>A
ENST00000562025.1:n.174-46G>A
ENST00000562318.5:c.*362-46G>A	ENSP00000454395.1:n.*362-46G>A
ENST00000565221.5:c.*258-46G>A	ENSP00000457932.1:n.*258-46G>A
ENST00000566540.5:c.*262-46G>A	ENSP00000454284.1:n.*262-46G>A
ENST00000566604.5:c.*180-46G>A	ENSP00000456774.1:n.*180-46G>A
ENST00000566983.5:c.559-46G>A	ENSP00000457956.1:n.559-46G>A
ENST00000567697.1:n.3808-46G>A
ENST00000569958.5:c.367-46G>A	ENSP00000456302.1:n.367-46G>A
ENST00000570076.5:c.*98-46G>A	ENSP00000456961.1:n.*98-46G>A
NM_000303.2:c.640-46G>A	NP_000294.1:n.640-46G>A
XM_005255374.3:c.391-46G>A	XP_005255431.1:n.391-46G>A
XM_011522538.1:c.640-7356G>A	XP_011520840.1:n.640-7356G>A
XM_005255374.4:c.391-46G>A	XP_005255431.1:n.391-46G>A
NM_000303.3:c.640-46G>A MANE Select	NP_000294.1:n.640-46G>A