Canonical Allele Identifier: CA493489876

Gene: PMM2

Linked Data

• dbSNP Id: rs2060940722
• gnomAD v3: 16-8848114-A-C
• gnomAD v4: 16-8848114-A-C
• MyVariant Identifiers: chr16:g.8941971A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848114A>C , CM000678.2:g.8848114A>C	GRCh38
NC_000016.9:g.8941971A>C , CM000678.1:g.8941971A>C	GRCh37
NC_000016.8:g.8849472A>C	NCBI36
NG_009209.1:g.55302A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4198A>C
ENST00000682393.1:c.*258-1255A>C	ENSP00000506774.1:n.*258-1255A>C
ENST00000683094.1:c.*262-1255A>C	ENSP00000508230.1:n.*262-1255A>C
ENST00000683274.1:c.*180-1255A>C	ENSP00000507262.1:n.*180-1255A>C
ENST00000268261.9:c.*289A>C MANE Select	ENSP00000268261.4:n.*289A>C
ENST00000268261.8:c.*289A>C	ENSP00000268261.4:n.*289A>C
ENST00000562025.1:n.564A>C
ENST00000566540.5:c.*652A>C	ENSP00000454284.1:n.*652A>C
ENST00000566604.5:c.*570A>C	ENSP00000456774.1:n.*570A>C
ENST00000567697.1:n.4198A>C
ENST00000570076.5:c.*488A>C	ENSP00000456961.1:n.*488A>C
NM_000303.2:c.*289A>C	NP_000294.1:n.*289A>C
XM_005255374.3:c.*289A>C	XP_005255431.1:n.*289A>C
XM_011522538.1:c.640-6920A>C	XP_011520840.1:n.640-6920A>C
XM_005255374.4:c.*289A>C	XP_005255431.1:n.*289A>C
NM_000303.3:c.*289A>C MANE Select	NP_000294.1:n.*289A>C