Canonical Allele Identifier: CA277481240

Gene: PMM2

Linked Data

• dbSNP Id: rs887940272
• gnomAD v3: 16-8797698-T-C
• gnomAD v4: 16-8797698-T-C
• MyVariant Identifiers: chr16:g.8891555T>C (hg19) ; chr16:g.8797698T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797698T>C , CM000678.2:g.8797698T>C	GRCh38
NC_000016.9:g.8891555T>C , CM000678.1:g.8891555T>C	GRCh37
NC_000016.8:g.8799056T>C	NCBI36
NG_009209.1:g.4886T>C
NG_033146.1:g.4951A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000566983.5:c.-15-4101T>C	ENSP00000457956.1:n.-15-4101T>C