Canonical Allele Identifier: CA2206128158
Gene: PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs544713774
gnomAD v4: 16-8797737-G-A
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Genomic Alleles

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

Transcript Alleles

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