Canonical Allele Identifier: CA2631641573
Gene: PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797721-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797721T>C , CM000678.2:g.8797721T>C GRCh38
NC_000016.9:g.8891578T>C , CM000678.1:g.8891578T>C GRCh37
NC_000016.8:g.8799079T>C NCBI36
NG_009209.1:g.4909T>C
NG_033146.1:g.4928A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.-162T>C ENSP00000507849.1:n.-162T>C
ENST00000566983.5:c.-15-4078T>C ENSP00000457956.1:n.-15-4078T>C
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