Canonical Allele Identifier: CA277500719

Gene: PMM2

Linked Data

• dbSNP Id: rs749367683
• gnomAD v4: 16-8848123-G-A
• MyVariant Identifiers: chr16:g.8941980G>A (hg19) ; chr16:g.8848123G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848123G>A , CM000678.2:g.8848123G>A	GRCh38
NC_000016.9:g.8941980G>A , CM000678.1:g.8941980G>A	GRCh37
NC_000016.8:g.8849481G>A	NCBI36
NG_009209.1:g.55311G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4207G>A
ENST00000682393.1:c.*258-1246G>A	ENSP00000506774.1:n.*258-1246G>A
ENST00000683094.1:c.*262-1246G>A	ENSP00000508230.1:n.*262-1246G>A
ENST00000683274.1:c.*180-1246G>A	ENSP00000507262.1:n.*180-1246G>A
ENST00000268261.9:c.*298G>A MANE Select	ENSP00000268261.4:n.*298G>A
ENST00000268261.8:c.*298G>A	ENSP00000268261.4:n.*298G>A
ENST00000566540.5:c.*661G>A	ENSP00000454284.1:n.*661G>A
ENST00000566604.5:c.*579G>A	ENSP00000456774.1:n.*579G>A
ENST00000567697.1:n.4207G>A
ENST00000570076.5:c.*497G>A	ENSP00000456961.1:n.*497G>A
NM_000303.2:c.*298G>A	NP_000294.1:n.*298G>A
XM_005255374.3:c.*298G>A	XP_005255431.1:n.*298G>A
XM_011522538.1:c.640-6911G>A	XP_011520840.1:n.640-6911G>A
XM_005255374.4:c.*298G>A	XP_005255431.1:n.*298G>A
NM_000303.3:c.*298G>A MANE Select	NP_000294.1:n.*298G>A