Canonical Allele Identifier: CA220627

Gene: PMM2

Linked Data

• ClinVar Variation Id: 92806
• ClinVar RCV Id: RCV000078596 ; RCV004526613
• dbSNP Id: rs398123311
• MyVariant Identifiers: chr16:g.8941627A>C (hg19) ; chr16:g.8847770A>C (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847770A>C , CM000678.2:g.8847770A>C	GRCh38
NC_000016.9:g.8941627A>C , CM000678.1:g.8941627A>C	GRCh37
NC_000016.8:g.8849128A>C	NCBI36
NG_009209.1:g.54958A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3854A>C
ENST00000682393.1:c.*258-1599A>C	ENSP00000506774.1:n.*258-1599A>C
ENST00000683094.1:c.*262-1599A>C	ENSP00000508230.1:n.*262-1599A>C
ENST00000683274.1:c.*180-1599A>C	ENSP00000507262.1:n.*180-1599A>C
ENST00000683435.1:c.*582A>C	ENSP00000508092.1:n.*582A>C
ENST00000268261.9:c.686A>C MANE Select	ENSP00000268261.4:p.Tyr229Ser
ENST00000268261.8:c.686A>C	ENSP00000268261.4:p.Tyr229Ser
ENST00000562025.1:n.220A>C
ENST00000562318.5:c.*408A>C	ENSP00000454395.1:n.*408A>C
ENST00000565221.5:c.*304A>C	ENSP00000457932.1:n.*304A>C
ENST00000566540.5:c.*308A>C	ENSP00000454284.1:n.*308A>C
ENST00000566604.5:c.*226A>C	ENSP00000456774.1:n.*226A>C
ENST00000566983.5:c.605A>C	ENSP00000457956.1:p.Tyr202Ser
ENST00000567697.1:n.3854A>C
ENST00000569958.5:c.413A>C	ENSP00000456302.1:p.Tyr138Ser
ENST00000570076.5:c.*144A>C	ENSP00000456961.1:n.*144A>C
NM_000303.2:c.686A>C	NP_000294.1:p.Tyr229Ser
XM_005255374.3:c.437A>C	XP_005255431.1:p.Tyr146Ser
XM_011522538.1:c.640-7264A>C	XP_011520840.1:n.640-7264A>C
XM_005255374.4:c.437A>C	XP_005255431.1:p.Tyr146Ser
NM_000303.3:c.686A>C MANE Select	NP_000294.1:p.Tyr229Ser