Canonical Allele Identifier: CA725520885
Gene: PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs1240597461
gnomAD v3: 16-8797775-C-A
gnomAD v4: 16-8797775-C-A
MyVariant Identifiers: chr16:g.8891632C>A (hg19) chr16:g.8797775C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797775C>A , CM000678.2:g.8797775C>A GRCh38
NC_000016.9:g.8891632C>A , CM000678.1:g.8891632C>A GRCh37
NC_000016.8:g.8799133C>A NCBI36
NG_009209.1:g.4963C>A
NG_033146.1:g.4874G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.-108C>A ENSP00000507849.1:n.-108C>A
ENST00000566983.5:c.-15-4024C>A ENSP00000457956.1:n.-15-4024C>A
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