Canonical Allele Identifier: CA294194301
Gene: ST6GALNAC2 HGNC NCBI
gnomAD v2:
17:74582336 C / CCCGG
gnomAD v3:
17:76586254 C / CCCGG
gnomAD v4:
chr17-76586254-C-CCCGG
Joint Max Group AF 0.12308908 (EAS)
Genomes Max Group AF 0.12306577 (EAS)
Exomes Max Group AF 0.08878713 (SAS)
dbSNP:
3840858
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.76586256_76586259dup , CM000679.2:g.76586256_76586259dup GRCh38
NC_000017.10:g.74582338_74582341dup , CM000679.1:g.74582338_74582341dup GRCh37
NC_000017.9:g.72093933_72093936dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000588005.5:n.88+611_88+614dup
Search 100 bp 5'
Search 100 bp 3'