Canonical Allele Identifier: CA277481221
Gene: PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs1027555944

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797656dup , CM000678.2:g.8797656dup GRCh38
NC_000016.9:g.8891513dup , CM000678.1:g.8891513dup GRCh37
NC_000016.8:g.8799014dup NCBI36
NG_009209.1:g.4844dup
NG_033146.1:g.4997dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4143dup ENSP00000457956.1:n.-15-4143dup