Canonical Allele Identifier: CA7894206

Gene: PMM2

Linked Data

• ClinVar Variation Id: 281189
• ClinVar RCV Id: RCV000306978
• dbSNP Id: rs761946981
• ExAC: 16:8941634 G / A
• gnomAD v4: 16-8847777-G-A
• MyVariant Identifiers: chr16:g.8941634G>A (hg19) ; chr16:g.8847777G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847777G>A , CM000678.2:g.8847777G>A	GRCh38
NC_000016.9:g.8941634G>A , CM000678.1:g.8941634G>A	GRCh37
NC_000016.8:g.8849135G>A	NCBI36
NG_009209.1:g.54965G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000567697.2:n.3861G>A
ENST00000682393.1:c.*258-1592G>A	ENSP00000506774.1:n.*258-1592G>A
ENST00000683094.1:c.*262-1592G>A	ENSP00000508230.1:n.*262-1592G>A
ENST00000683274.1:c.*180-1592G>A	ENSP00000507262.1:n.*180-1592G>A
ENST00000683435.1:c.*589G>A	ENSP00000508092.1:n.*589G>A
ENST00000268261.9:c.693G>A MANE Select	ENSP00000268261.4:p.Val231=
ENST00000268261.8:c.693G>A	ENSP00000268261.4:p.Val231=
ENST00000562025.1:n.227G>A
ENST00000562318.5:c.*415G>A	ENSP00000454395.1:n.*415G>A
ENST00000565221.5:c.*311G>A	ENSP00000457932.1:n.*311G>A
ENST00000566540.5:c.*315G>A	ENSP00000454284.1:n.*315G>A
ENST00000566604.5:c.*233G>A	ENSP00000456774.1:n.*233G>A
ENST00000566983.5:c.612G>A	ENSP00000457956.1:p.Val204=
ENST00000567697.1:n.3861G>A
ENST00000569958.5:c.420G>A	ENSP00000456302.1:p.Val140=
ENST00000570076.5:c.*151G>A	ENSP00000456961.1:n.*151G>A
NM_000303.2:c.693G>A	NP_000294.1:p.Val231=
XM_005255374.3:c.444G>A	XP_005255431.1:p.Val148=
XM_011522538.1:c.640-7257G>A	XP_011520840.1:n.640-7257G>A
XM_005255374.4:c.444G>A	XP_005255431.1:p.Val148=
NM_000303.3:c.693G>A MANE Select	NP_000294.1:p.Val231=