Canonical Allele Identifier: CA277481264
Gene: PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs767220786
gnomAD v3: 16-8797769-C-T
gnomAD v4: 16-8797769-C-T
MyVariant Identifiers: chr16:g.8891626C>T (hg19) chr16:g.8797769C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797769C>T , CM000678.2:g.8797769C>T GRCh38
NC_000016.9:g.8891626C>T , CM000678.1:g.8891626C>T GRCh37
NC_000016.8:g.8799127C>T NCBI36
NG_009209.1:g.4957C>T
NG_033146.1:g.4880G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.-114C>T ENSP00000507849.1:n.-114C>T
ENST00000566983.5:c.-15-4030C>T ENSP00000457956.1:n.-15-4030C>T
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