Canonical Allele Identifier: CA620726922
Gene: PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs1398185767
gnomAD v2: 16-8891606-A-G
gnomAD v3: 16-8797749-A-G
gnomAD v4: 16-8797749-A-G
MyVariant Identifiers: chr16:g.8891606A>G (hg19) chr16:g.8797749A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797749A>G , CM000678.2:g.8797749A>G GRCh38
NC_000016.9:g.8891606A>G , CM000678.1:g.8891606A>G GRCh37
NC_000016.8:g.8799107A>G NCBI36
NG_009209.1:g.4937A>G
NG_033146.1:g.4900T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.-134A>G ENSP00000507849.1:n.-134A>G
ENST00000566983.5:c.-15-4050A>G ENSP00000457956.1:n.-15-4050A>G
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