Canonical Allele Identifier: CA402887366
Gene: HCN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2216123
ClinVar RCV Id: RCV002691361
gnomAD v4: 19-616046-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.616046G>C , CM000681.2:g.616046G>C GRCh38
NC_000019.9:g.616046G>C , CM000681.1:g.616046G>C GRCh37
NC_000019.8:g.567046G>C NCBI36
NG_023049.1:g.22523C>G
NG_052810.1:g.31154G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251287.3:c.2242G>C MANE Select ENSP00000251287.1:p.Gly748Arg
ENST00000251287.2:c.2242G>C ENSP00000251287.1:p.Gly748Arg
NM_001194.3:c.2242G>C NP_001185.3:p.Gly748Arg
NM_001194.4:c.2242G>C MANE Select NP_001185.3:p.Gly748Arg