Canonical Allele Identifier: CA9018833
Gene: HCN2 HGNC NCBI

Linked Data

dbSNP Id: rs570173268
gnomAD v2: 19-615919-C-G
gnomAD v4: 19-615919-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.615919C>G , CM000681.2:g.615919C>G GRCh38
NC_000019.9:g.615919C>G , CM000681.1:g.615919C>G GRCh37
NC_000019.8:g.566919C>G NCBI36
NG_023049.1:g.22650G>C
NG_052810.1:g.31027C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251287.3:c.2115C>G MANE Select ENSP00000251287.1:p.Ala705=
ENST00000251287.2:c.2115C>G ENSP00000251287.1:p.Ala705=
NM_001194.3:c.2115C>G NP_001185.3:p.Ala705=
NM_001194.4:c.2115C>G MANE Select NP_001185.3:p.Ala705=