Canonical Allele Identifier: CA2805787358
Gene: PMM2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797706G>C , CM000678.2:g.8797706G>C GRCh38
NC_000016.9:g.8891563G>C , CM000678.1:g.8891563G>C GRCh37
NC_000016.8:g.8799064G>C NCBI36
NG_009209.1:g.4894G>C
NG_033146.1:g.4943C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4093G>C ENSP00000457956.1:n.-15-4093G>C
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