Canonical Allele Identifier: CA394689581

Gene: PMM2

Linked Data

• ClinVar Variation Id: 3008048
• ClinVar RCV Id: RCV003866711
• dbSNP Id: rs80338707
• gnomAD v2: 16-8941632-G-C
• gnomAD v4: 16-8847775-G-C
• MyVariant Identifiers: chr16:g.8941632G>C (hg19) ; chr16:g.8847775G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847775G>C , CM000678.2:g.8847775G>C	GRCh38
NC_000016.9:g.8941632G>C , CM000678.1:g.8941632G>C	GRCh37
NC_000016.8:g.8849133G>C	NCBI36
NG_009209.1:g.54963G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3859G>C
ENST00000682393.1:c.*258-1594G>C	ENSP00000506774.1:n.*258-1594G>C
ENST00000683094.1:c.*262-1594G>C	ENSP00000508230.1:n.*262-1594G>C
ENST00000683274.1:c.*180-1594G>C	ENSP00000507262.1:n.*180-1594G>C
ENST00000683435.1:c.*587G>C	ENSP00000508092.1:n.*587G>C
ENST00000268261.9:c.691G>C MANE Select	ENSP00000268261.4:p.Val231Leu
ENST00000268261.8:c.691G>C	ENSP00000268261.4:p.Val231Leu
ENST00000562025.1:n.225G>C
ENST00000562318.5:c.*413G>C	ENSP00000454395.1:n.*413G>C
ENST00000565221.5:c.*309G>C	ENSP00000457932.1:n.*309G>C
ENST00000566540.5:c.*313G>C	ENSP00000454284.1:n.*313G>C
ENST00000566604.5:c.*231G>C	ENSP00000456774.1:n.*231G>C
ENST00000566983.5:c.610G>C	ENSP00000457956.1:p.Val204Leu
ENST00000567697.1:n.3859G>C
ENST00000569958.5:c.418G>C	ENSP00000456302.1:p.Val140Leu
ENST00000570076.5:c.*149G>C	ENSP00000456961.1:n.*149G>C
NM_000303.2:c.691G>C	NP_000294.1:p.Val231Leu
XM_005255374.3:c.442G>C	XP_005255431.1:p.Val148Leu
XM_011522538.1:c.640-7259G>C	XP_011520840.1:n.640-7259G>C
XM_005255374.4:c.442G>C	XP_005255431.1:p.Val148Leu
NM_000303.3:c.691G>C MANE Select	NP_000294.1:p.Val231Leu