Canonical Allele Identifier: CA7893823
Gene: PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs771684256
ExAC: 16:8891507 G / A
gnomAD v2: 16-8891507-G-A
gnomAD v3: 16-8797650-G-A
gnomAD v4: 16-8797650-G-A
MyVariant Identifiers: chr16:g.8891507G>A (hg19) chr16:g.8797650G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797650G>A , CM000678.2:g.8797650G>A GRCh38
NC_000016.9:g.8891507G>A , CM000678.1:g.8891507G>A GRCh37
NC_000016.8:g.8799008G>A NCBI36
NG_009209.1:g.4838G>A
NG_033146.1:g.4999C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4149G>A ENSP00000457956.1:n.-15-4149G>A
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