ClinGen Allele Registry
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Canonical Allele Identifier:
CA212023126
Gene: HECTD2-AS1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr10:g.91588363G>A
GRCh37
chr10:g.93348120G>A
Linked Data - Sequence & Population
gnomAD v2:
10:93348120 G / A
gnomAD v3:
10:91588363 G / A
gnomAD v4:
chr10-91588363-G-A
Joint Max Group AF
0.00152368 (AMR)
Genomes Max Group AF
0.00152368 (AMR)
Linked Data - NCBI & NCI
dbSNP:
1329650
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.91588363G>A , CM000672.2:g.91588363G>A
GRCh38
NC_000010.10:g.93348120G>A , CM000672.1:g.93348120G>A
GRCh37
NC_000010.9:g.93338100G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_024467.1:n.110+22988C>T
Search 100 bp 5'
Search 100 bp 3'