Canonical Allele Identifier: CA402868880
Gene: HCN2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.590322C>T
GRCh37 chr19:g.590322C>T
Revel Score:
ENST00000251287 (MANE Select) 0.672
gnomAD v4:
chr19-590322-C-T
Joint Max Group AF 0.00003413 (EAS)
Exomes Max Group AF 0.00006579 (EAS)
ClinVar RCV:
RCV001637971
ClinVar Variation:
1240010
dbSNP:
1258293482
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.590322C>T , CM000681.2:g.590322C>T GRCh38
NC_000019.9:g.590322C>T , CM000681.1:g.590322C>T GRCh37
NC_000019.8:g.541322C>T NCBI36
NG_052810.1:g.5430C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251287.3:c.377C>T MANE Select ENSP00000251287.1:p.Ser126Leu
ENST00000251287.2:c.377C>T ENSP00000251287.1:p.Ser126Leu
NM_001194.3:c.377C>T NP_001185.3:p.Ser126Leu
NM_001194.4:c.377C>T MANE Select NP_001185.3:p.Ser126Leu
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