Canonical Allele Identifier: CA2206128156

Gene: PMM2

Linked Data

• dbSNP Id: rs2060586601

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797734del , CM000678.2:g.8797734del	GRCh38
NC_000016.9:g.8891591del , CM000678.1:g.8891591del	GRCh37
NC_000016.8:g.8799092del	NCBI36
NG_009209.1:g.4922del
NG_033146.1:g.4916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.-149del	ENSP00000507849.1:n.-149del
ENST00000566983.5:c.-15-4065del	ENSP00000457956.1:n.-15-4065del