Canonical Allele Identifier: CA277481266
Gene: PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs990635823
gnomAD v2: 16-8891636-T-G
gnomAD v3: 16-8797779-T-G
gnomAD v4: 16-8797779-T-G
MyVariant Identifiers: chr16:g.8891636T>G (hg19) chr16:g.8797779T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797779T>G , CM000678.2:g.8797779T>G GRCh38
NC_000016.9:g.8891636T>G , CM000678.1:g.8891636T>G GRCh37
NC_000016.8:g.8799137T>G NCBI36
NG_009209.1:g.4967T>G
NG_033146.1:g.4870A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.-104T>G ENSP00000507849.1:n.-104T>G
ENST00000566983.5:c.-15-4020T>G ENSP00000457956.1:n.-15-4020T>G
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