Canonical Allele Identifier: CA104455969
Gene: ANK2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.112789017T>C
GRCh37 chr4:g.113710173T>C
gnomAD v2:
4:113710173 T / C
gnomAD v3:
4:112789017 T / C
gnomAD v4:
chr4-112789017-T-C
Joint Max Group AF 0.56863755 (EAS)
Genomes Max Group AF 0.56393553 (EAS)
Exomes Max Group AF 0.56699693 (EAS)
dbSNP:
11098171
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.112789017T>C , CM000666.2:g.112789017T>C GRCh38
NC_000004.11:g.113710173T>C , CM000666.1:g.113710173T>C GRCh37
NC_000004.10:g.113929622T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001354269.1:c.72+82800T>C NP_001341198.1:n.72+82800T>C
NM_001354269.3:c.72+82800T>C NP_001341198.1:n.72+82800T>C
NM_001386148.2:c.72+82800T>C NP_001373077.1:n.72+82800T>C
NM_001386186.2:c.72+82800T>C NP_001373115.1:n.72+82800T>C
NM_001386187.2:c.72+82800T>C NP_001373116.1:n.72+82800T>C
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