Canonical Allele Identifier: CA493506184
Gene: PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs2060586213
gnomAD v3: 16-8797693-G-A
gnomAD v4: 16-8797693-G-A
MyVariant Identifiers: chr16:g.8891550G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797693G>A , CM000678.2:g.8797693G>A GRCh38
NC_000016.9:g.8891550G>A , CM000678.1:g.8891550G>A GRCh37
NC_000016.8:g.8799051G>A NCBI36
NG_009209.1:g.4881G>A
NG_033146.1:g.4956C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4106G>A ENSP00000457956.1:n.-15-4106G>A
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