Canonical Allele Identifier: CA2631641589
Gene: PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797731-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797731G>C , CM000678.2:g.8797731G>C GRCh38
NC_000016.9:g.8891588G>C , CM000678.1:g.8891588G>C GRCh37
NC_000016.8:g.8799089G>C NCBI36
NG_009209.1:g.4919G>C
NG_033146.1:g.4918C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.-152G>C ENSP00000507849.1:n.-152G>C
ENST00000566983.5:c.-15-4068G>C ENSP00000457956.1:n.-15-4068G>C
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