Canonical Allele Identifier: CA277481246
Gene: PMM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3032872
ClinVar RCV Id: RCV003894510
dbSNP Id: rs142055952
gnomAD v2: 16-8891580-G-A
gnomAD v3: 16-8797723-G-A
gnomAD v4: 16-8797723-G-A
MyVariant Identifiers: chr16:g.8891580G>A (hg19) chr16:g.8797723G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797723G>A , CM000678.2:g.8797723G>A GRCh38
NC_000016.9:g.8891580G>A , CM000678.1:g.8891580G>A GRCh37
NC_000016.8:g.8799081G>A NCBI36
NG_009209.1:g.4911G>A
NG_033146.1:g.4926C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.-160G>A ENSP00000507849.1:n.-160G>A
ENST00000566983.5:c.-15-4076G>A ENSP00000457956.1:n.-15-4076G>A
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