Canonical Allele Identifier: CA974430625
Gene: PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs2060586449
gnomAD v3: 16-8797712-C-T
gnomAD v4: 16-8797712-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797712C>T , CM000678.2:g.8797712C>T GRCh38
NC_000016.9:g.8891569C>T , CM000678.1:g.8891569C>T GRCh37
NC_000016.8:g.8799070C>T NCBI36
NG_009209.1:g.4900C>T
NG_033146.1:g.4937G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4087C>T ENSP00000457956.1:n.-15-4087C>T
Search 100 bp 5'
Search 100 bp 3'