Canonical Allele Identifier: CA277481255

Gene: PMM2

Linked Data

• dbSNP Id: rs966464541
• gnomAD v2: 16-8891610-C-T
• gnomAD v3: 16-8797753-C-T
• gnomAD v4: 16-8797753-C-T
• MyVariant Identifiers: chr16:g.8891610C>T (hg19) ; chr16:g.8797753C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797753C>T , CM000678.2:g.8797753C>T	GRCh38
NC_000016.9:g.8891610C>T , CM000678.1:g.8891610C>T	GRCh37
NC_000016.8:g.8799111C>T	NCBI36
NG_009209.1:g.4941C>T
NG_033146.1:g.4896G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.-130C>T	ENSP00000507849.1:n.-130C>T
ENST00000566983.5:c.-15-4046C>T	ENSP00000457956.1:n.-15-4046C>T