Canonical Allele Identifier: CA277481232
Gene: PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs1047959332
gnomAD v2: 16-8891544-C-A
gnomAD v3: 16-8797687-C-A
gnomAD v4: 16-8797687-C-A
MyVariant Identifiers: chr16:g.8891544C>A (hg19) chr16:g.8797687C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797687C>A , CM000678.2:g.8797687C>A GRCh38
NC_000016.9:g.8891544C>A , CM000678.1:g.8891544C>A GRCh37
NC_000016.8:g.8799045C>A NCBI36
NG_009209.1:g.4875C>A
NG_033146.1:g.4962G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4112C>A ENSP00000457956.1:n.-15-4112C>A
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