Canonical Allele Identifier: CA974430659
Gene: PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs2060586995
gnomAD v3: 16-8797778-C-T
gnomAD v4: 16-8797778-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797778C>T , CM000678.2:g.8797778C>T GRCh38
NC_000016.9:g.8891635C>T , CM000678.1:g.8891635C>T GRCh37
NC_000016.8:g.8799136C>T NCBI36
NG_009209.1:g.4966C>T
NG_033146.1:g.4871G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.-105C>T ENSP00000507849.1:n.-105C>T
ENST00000566983.5:c.-15-4021C>T ENSP00000457956.1:n.-15-4021C>T
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