Canonical Allele Identifier: CA2206128136
Gene: PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs2060586346
gnomAD v4: 16-8797701-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797701T>C , CM000678.2:g.8797701T>C GRCh38
NC_000016.9:g.8891558T>C , CM000678.1:g.8891558T>C GRCh37
NC_000016.8:g.8799059T>C NCBI36
NG_009209.1:g.4889T>C
NG_033146.1:g.4948A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4098T>C ENSP00000457956.1:n.-15-4098T>C
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