Canonical Allele Identifier: CA2206128138
Gene: PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs2060586361
gnomAD v4: 16-8797703-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797703T>C , CM000678.2:g.8797703T>C GRCh38
NC_000016.9:g.8891560T>C , CM000678.1:g.8891560T>C GRCh37
NC_000016.8:g.8799061T>C NCBI36
NG_009209.1:g.4891T>C
NG_033146.1:g.4946A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4096T>C ENSP00000457956.1:n.-15-4096T>C
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