Canonical Allele Identifier: CA11091327
Gene: HAGLR HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.176177905A>C
GRCh37 chr2:g.177042633A>C
gnomAD v2:
2:177042633 A / C
gnomAD v3:
2:176177905 A / C
gnomAD v4:
chr2-176177905-A-C
Joint Max Group AF 0.88123321 (AFR)
Genomes Max Group AF 0.88153219 (AFR)
Exomes Max Group AF 0.7688149 (AFR)
dbSNP:
2072590
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.176177905A>C , CM000664.2:g.176177905A>C GRCh38
NC_000002.11:g.177042633A>C , CM000664.1:g.177042633A>C GRCh37
NC_000002.10:g.176750879A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_033979.2:n.146-411T>G
NR_110458.1:n.225T>G
NR_110459.1:n.225-49T>G
NR_110460.1:n.225-79T>G
NR_110461.1:n.276-411T>G
NR_110462.1:n.225T>G
NR_110463.1:n.128-84T>G
NR_110464.1:n.116-84T>G
NR_110465.1:n.225-411T>G
NR_110466.1:n.155-411T>G
NR_110467.1:n.127+98T>G
NR_110468.1:n.115+110T>G
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