Canonical Allele Identifier: CA620726918
Gene: PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs1475500239
gnomAD v2: 16-8891561-G-C
gnomAD v3: 16-8797704-G-C
gnomAD v4: 16-8797704-G-C
MyVariant Identifiers: chr16:g.8891561G>C (hg19) chr16:g.8797704G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797704G>C , CM000678.2:g.8797704G>C GRCh38
NC_000016.9:g.8891561G>C , CM000678.1:g.8891561G>C GRCh37
NC_000016.8:g.8799062G>C NCBI36
NG_009209.1:g.4892G>C
NG_033146.1:g.4945C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4095G>C ENSP00000457956.1:n.-15-4095G>C
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