Canonical Allele Identifier: CA2631641623
Gene: PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797745-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797745C>G , CM000678.2:g.8797745C>G GRCh38
NC_000016.9:g.8891602C>G , CM000678.1:g.8891602C>G GRCh37
NC_000016.8:g.8799103C>G NCBI36
NG_009209.1:g.4933C>G
NG_033146.1:g.4904G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.-138C>G ENSP00000507849.1:n.-138C>G
ENST00000566983.5:c.-15-4054C>G ENSP00000457956.1:n.-15-4054C>G
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