Canonical Allele Identifier: CA2206128184
Gene: PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs1282788847
gnomAD v4: 16-8797776-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797776C>G , CM000678.2:g.8797776C>G GRCh38
NC_000016.9:g.8891633C>G , CM000678.1:g.8891633C>G GRCh37
NC_000016.8:g.8799134C>G NCBI36
NG_009209.1:g.4964C>G
NG_033146.1:g.4873G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.-107C>G ENSP00000507849.1:n.-107C>G
ENST00000566983.5:c.-15-4023C>G ENSP00000457956.1:n.-15-4023C>G
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