Canonical Allele Identifier: CA9018867
Gene: HCN2 HGNC NCBI

Linked Data

dbSNP Id: rs758094024
gnomAD v2: 19-615979-G-A
gnomAD v3: 19-615979-G-A
gnomAD v4: 19-615979-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.615979G>A , CM000681.2:g.615979G>A GRCh38
NC_000019.9:g.615979G>A , CM000681.1:g.615979G>A GRCh37
NC_000019.8:g.566979G>A NCBI36
NG_023049.1:g.22590C>T
NG_052810.1:g.31087G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251287.3:c.2175G>A MANE Select ENSP00000251287.1:p.Ser725=
ENST00000251287.2:c.2175G>A ENSP00000251287.1:p.Ser725=
NM_001194.3:c.2175G>A NP_001185.3:p.Ser725=
NM_001194.4:c.2175G>A MANE Select NP_001185.3:p.Ser725=