Canonical Allele Identifier: CA620726924

Gene: PMM2

Linked Data

• dbSNP Id: rs1282788847
• gnomAD v2: 16-8891633-C-T
• gnomAD v3: 16-8797776-C-T
• gnomAD v4: 16-8797776-C-T
• MyVariant Identifiers: chr16:g.8891633C>T (hg19) ; chr16:g.8797776C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797776C>T , CM000678.2:g.8797776C>T	GRCh38
NC_000016.9:g.8891633C>T , CM000678.1:g.8891633C>T	GRCh37
NC_000016.8:g.8799134C>T	NCBI36
NG_009209.1:g.4964C>T
NG_033146.1:g.4873G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.-107C>T	ENSP00000507849.1:n.-107C>T
ENST00000566983.5:c.-15-4023C>T	ENSP00000457956.1:n.-15-4023C>T