Canonical Allele Identifier: CA2206128172
Gene: PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs1596481707
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797760T>G , CM000678.2:g.8797760T>G GRCh38
NC_000016.9:g.8891617T>G , CM000678.1:g.8891617T>G GRCh37
NC_000016.8:g.8799118T>G NCBI36
NG_009209.1:g.4948T>G
NG_033146.1:g.4889A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.-123T>G ENSP00000507849.1:n.-123T>G
ENST00000566983.5:c.-15-4039T>G ENSP00000457956.1:n.-15-4039T>G
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