Canonical Allele Identifier: CA277481253
Gene: PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs1029936188
gnomAD v2: 16-8891605-T-A
gnomAD v3: 16-8797748-T-A
gnomAD v4: 16-8797748-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797748T>A , CM000678.2:g.8797748T>A GRCh38
NC_000016.9:g.8891605T>A , CM000678.1:g.8891605T>A GRCh37
NC_000016.8:g.8799106T>A NCBI36
NG_009209.1:g.4936T>A
NG_033146.1:g.4901A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.-135T>A ENSP00000507849.1:n.-135T>A
ENST00000566983.5:c.-15-4051T>A ENSP00000457956.1:n.-15-4051T>A