Canonical Allele Identifier: CA277481248
Gene: PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs544713774
gnomAD v3: 16-8797737-G-C
gnomAD v4: 16-8797737-G-C
MyVariant Identifiers: chr16:g.8891594G>C (hg19) chr16:g.8797737G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797737G>C , CM000678.2:g.8797737G>C GRCh38
NC_000016.9:g.8891594G>C , CM000678.1:g.8891594G>C GRCh37
NC_000016.8:g.8799095G>C NCBI36
NG_009209.1:g.4925G>C
NG_033146.1:g.4912C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.-146G>C ENSP00000507849.1:n.-146G>C
ENST00000566983.5:c.-15-4062G>C ENSP00000457956.1:n.-15-4062G>C
Search 100 bp 5'
Search 100 bp 3'