Canonical Allele Identifier: CA725520843
Gene: PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs544713774
gnomAD v3: 16-8797737-G-T
gnomAD v4: 16-8797737-G-T
MyVariant Identifiers: chr16:g.8891594G>T (hg19) chr16:g.8797737G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797737G>T , CM000678.2:g.8797737G>T GRCh38
NC_000016.9:g.8891594G>T , CM000678.1:g.8891594G>T GRCh37
NC_000016.8:g.8799095G>T NCBI36
NG_009209.1:g.4925G>T
NG_033146.1:g.4912C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.-146G>T ENSP00000507849.1:n.-146G>T
ENST00000566983.5:c.-15-4062G>T ENSP00000457956.1:n.-15-4062G>T
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