Canonical Allele Identifier: CA725520896
Gene: PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs1483133533
gnomAD v4: 16-8797777-C-T
MyVariant Identifiers: chr16:g.8891634C>T (hg19) chr16:g.8797777C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797777C>T , CM000678.2:g.8797777C>T GRCh38
NC_000016.9:g.8891634C>T , CM000678.1:g.8891634C>T GRCh37
NC_000016.8:g.8799135C>T NCBI36
NG_009209.1:g.4965C>T
NG_033146.1:g.4872G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.-106C>T ENSP00000507849.1:n.-106C>T
ENST00000566983.5:c.-15-4022C>T ENSP00000457956.1:n.-15-4022C>T
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