Canonical Allele Identifier: CA2631641662
Gene: PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797763-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797763T>C , CM000678.2:g.8797763T>C GRCh38
NC_000016.9:g.8891620T>C , CM000678.1:g.8891620T>C GRCh37
NC_000016.8:g.8799121T>C NCBI36
NG_009209.1:g.4951T>C
NG_033146.1:g.4886A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.-120T>C ENSP00000507849.1:n.-120T>C
ENST00000566983.5:c.-15-4036T>C ENSP00000457956.1:n.-15-4036T>C