Canonical Allele Identifier: CA725562506

Gene: PMM2

Linked Data

• dbSNP Id: rs910790397
• gnomAD v3: 16-8848099-T-C
• gnomAD v4: 16-8848099-T-C
• MyVariant Identifiers: chr16:g.8941956T>C (hg19) ; chr16:g.8848099T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8848099T>C , CM000678.2:g.8848099T>C	GRCh38
NC_000016.9:g.8941956T>C , CM000678.1:g.8941956T>C	GRCh37
NC_000016.8:g.8849457T>C	NCBI36
NG_009209.1:g.55287T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.4183T>C
ENST00000682393.1:c.*258-1270T>C	ENSP00000506774.1:n.*258-1270T>C
ENST00000683094.1:c.*262-1270T>C	ENSP00000508230.1:n.*262-1270T>C
ENST00000683274.1:c.*180-1270T>C	ENSP00000507262.1:n.*180-1270T>C
ENST00000268261.9:c.*274T>C MANE Select	ENSP00000268261.4:n.*274T>C
ENST00000268261.8:c.*274T>C	ENSP00000268261.4:n.*274T>C
ENST00000562025.1:n.549T>C
ENST00000566540.5:c.*637T>C	ENSP00000454284.1:n.*637T>C
ENST00000566604.5:c.*555T>C	ENSP00000456774.1:n.*555T>C
ENST00000567697.1:n.4183T>C
ENST00000570076.5:c.*473T>C	ENSP00000456961.1:n.*473T>C
NM_000303.2:c.*274T>C	NP_000294.1:n.*274T>C
XM_005255374.3:c.*274T>C	XP_005255431.1:n.*274T>C
XM_011522538.1:c.640-6935T>C	XP_011520840.1:n.640-6935T>C
XM_005255374.4:c.*274T>C	XP_005255431.1:n.*274T>C
NM_000303.3:c.*274T>C MANE Select	NP_000294.1:n.*274T>C