Canonical Allele Identifier: CA277500648

Gene: PMM2

Linked Data

• dbSNP Id: rs888360921
• gnomAD v2: 16-8941900-C-T
• gnomAD v3: 16-8848043-C-T
• gnomAD v4: 16-8848043-C-T
• MyVariant Identifiers: chr16:g.8941900C>T (hg19) ; chr16:g.8848043C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848043C>T , CM000678.2:g.8848043C>T	GRCh38
NC_000016.9:g.8941900C>T , CM000678.1:g.8941900C>T	GRCh37
NC_000016.8:g.8849401C>T	NCBI36
NG_009209.1:g.55231C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4127C>T
ENST00000682393.1:c.*258-1326C>T	ENSP00000506774.1:n.*258-1326C>T
ENST00000683094.1:c.*262-1326C>T	ENSP00000508230.1:n.*262-1326C>T
ENST00000683274.1:c.*180-1326C>T	ENSP00000507262.1:n.*180-1326C>T
ENST00000268261.9:c.*218C>T MANE Select	ENSP00000268261.4:n.*218C>T
ENST00000268261.8:c.*218C>T	ENSP00000268261.4:n.*218C>T
ENST00000562025.1:n.493C>T
ENST00000562318.5:c.*681C>T	ENSP00000454395.1:n.*681C>T
ENST00000566540.5:c.*581C>T	ENSP00000454284.1:n.*581C>T
ENST00000566604.5:c.*499C>T	ENSP00000456774.1:n.*499C>T
ENST00000567697.1:n.4127C>T
ENST00000570076.5:c.*417C>T	ENSP00000456961.1:n.*417C>T
NM_000303.2:c.*218C>T	NP_000294.1:n.*218C>T
XM_005255374.3:c.*218C>T	XP_005255431.1:n.*218C>T
XM_011522538.1:c.640-6991C>T	XP_011520840.1:n.640-6991C>T
XM_005255374.4:c.*218C>T	XP_005255431.1:n.*218C>T
NM_000303.3:c.*218C>T MANE Select	NP_000294.1:n.*218C>T