Canonical Allele Identifier: CA620726905

Gene: PMM2

Linked Data

• dbSNP Id: rs373203391
• gnomAD v2: 16-8891511-C-G
• gnomAD v4: 16-8797654-C-G
• MyVariant Identifiers: chr16:g.8891511C>G (hg19) ; chr16:g.8797654C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797654C>G , CM000678.2:g.8797654C>G	GRCh38
NC_000016.9:g.8891511C>G , CM000678.1:g.8891511C>G	GRCh37
NC_000016.8:g.8799012C>G	NCBI36
NG_009209.1:g.4842C>G
NG_033146.1:g.4995G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000566983.5:c.-15-4145C>G	ENSP00000457956.1:n.-15-4145C>G