Canonical Allele Identifier: CA493489887

Gene: PMM2

Linked Data

• dbSNP Id: rs2060940775
• gnomAD v4: 16-8848118-T-C
• MyVariant Identifiers: chr16:g.8941975T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848118T>C , CM000678.2:g.8848118T>C	GRCh38
NC_000016.9:g.8941975T>C , CM000678.1:g.8941975T>C	GRCh37
NC_000016.8:g.8849476T>C	NCBI36
NG_009209.1:g.55306T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4202T>C
ENST00000682393.1:c.*258-1251T>C	ENSP00000506774.1:n.*258-1251T>C
ENST00000683094.1:c.*262-1251T>C	ENSP00000508230.1:n.*262-1251T>C
ENST00000683274.1:c.*180-1251T>C	ENSP00000507262.1:n.*180-1251T>C
ENST00000268261.9:c.*293T>C MANE Select	ENSP00000268261.4:n.*293T>C
ENST00000268261.8:c.*293T>C	ENSP00000268261.4:n.*293T>C
ENST00000562025.1:n.568T>C
ENST00000566540.5:c.*656T>C	ENSP00000454284.1:n.*656T>C
ENST00000566604.5:c.*574T>C	ENSP00000456774.1:n.*574T>C
ENST00000567697.1:n.4202T>C
ENST00000570076.5:c.*492T>C	ENSP00000456961.1:n.*492T>C
NM_000303.2:c.*293T>C	NP_000294.1:n.*293T>C
XM_005255374.3:c.*293T>C	XP_005255431.1:n.*293T>C
XM_011522538.1:c.640-6916T>C	XP_011520840.1:n.640-6916T>C
XM_005255374.4:c.*293T>C	XP_005255431.1:n.*293T>C
NM_000303.3:c.*293T>C MANE Select	NP_000294.1:n.*293T>C