Canonical Allele Identifier: CA621172708

Gene: PMM2

Linked Data

• dbSNP Id: rs1314871757
• gnomAD v2: 16-8941930-G-C
• gnomAD v3: 16-8848073-G-C
• gnomAD v4: 16-8848073-G-C
• MyVariant Identifiers: chr16:g.8941930G>C (hg19) ; chr16:g.8848073G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848073G>C , CM000678.2:g.8848073G>C	GRCh38
NC_000016.9:g.8941930G>C , CM000678.1:g.8941930G>C	GRCh37
NC_000016.8:g.8849431G>C	NCBI36
NG_009209.1:g.55261G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4157G>C
ENST00000682393.1:c.*258-1296G>C	ENSP00000506774.1:n.*258-1296G>C
ENST00000683094.1:c.*262-1296G>C	ENSP00000508230.1:n.*262-1296G>C
ENST00000683274.1:c.*180-1296G>C	ENSP00000507262.1:n.*180-1296G>C
ENST00000268261.9:c.*248G>C MANE Select	ENSP00000268261.4:n.*248G>C
ENST00000268261.8:c.*248G>C	ENSP00000268261.4:n.*248G>C
ENST00000562025.1:n.523G>C
ENST00000566540.5:c.*611G>C	ENSP00000454284.1:n.*611G>C
ENST00000566604.5:c.*529G>C	ENSP00000456774.1:n.*529G>C
ENST00000567697.1:n.4157G>C
ENST00000570076.5:c.*447G>C	ENSP00000456961.1:n.*447G>C
NM_000303.2:c.*248G>C	NP_000294.1:n.*248G>C
XM_005255374.3:c.*248G>C	XP_005255431.1:n.*248G>C
XM_011522538.1:c.640-6961G>C	XP_011520840.1:n.640-6961G>C
XM_005255374.4:c.*248G>C	XP_005255431.1:n.*248G>C
NM_000303.3:c.*248G>C MANE Select	NP_000294.1:n.*248G>C