Canonical Allele Identifier: CA277481234
Gene: PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs1015882031
gnomAD v3: 16-8797688-A-C
gnomAD v4: 16-8797688-A-C
MyVariant Identifiers: chr16:g.8891545A>C (hg19) chr16:g.8797688A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797688A>C , CM000678.2:g.8797688A>C GRCh38
NC_000016.9:g.8891545A>C , CM000678.1:g.8891545A>C GRCh37
NC_000016.8:g.8799046A>C NCBI36
NG_009209.1:g.4876A>C
NG_033146.1:g.4961T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4111A>C ENSP00000457956.1:n.-15-4111A>C
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