Canonical Allele Identifier: CA504875726
Gene: HCN2 HGNC NCBI

Linked Data

dbSNP Id: rs1201796734
gnomAD v2: 19-615997-G-A
gnomAD v4: 19-615997-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.615997G>A , CM000681.2:g.615997G>A GRCh38
NC_000019.9:g.615997G>A , CM000681.1:g.615997G>A GRCh37
NC_000019.8:g.566997G>A NCBI36
NG_023049.1:g.22572C>T
NG_052810.1:g.31105G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251287.3:c.2193G>A MANE Select ENSP00000251287.1:p.Gln731=
ENST00000251287.2:c.2193G>A ENSP00000251287.1:p.Gln731=
NM_001194.3:c.2193G>A NP_001185.3:p.Gln731=
NM_001194.4:c.2193G>A MANE Select NP_001185.3:p.Gln731=