Canonical Allele Identifier: CA2575906312
Gene: PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797700-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797700A>G , CM000678.2:g.8797700A>G GRCh38
NC_000016.9:g.8891557A>G , CM000678.1:g.8891557A>G GRCh37
NC_000016.8:g.8799058A>G NCBI36
NG_009209.1:g.4888A>G
NG_033146.1:g.4949T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4099A>G ENSP00000457956.1:n.-15-4099A>G
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