Canonical Allele Identifier: CA504875796
Gene: HCN2 HGNC NCBI

Linked Data

gnomAD v4: 19-616042-C-A
MyVariant Identifiers: chr19:g.616042C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.616042C>A , CM000681.2:g.616042C>A GRCh38
NC_000019.9:g.616042C>A , CM000681.1:g.616042C>A GRCh37
NC_000019.8:g.567042C>A NCBI36
NG_023049.1:g.22527G>T
NG_052810.1:g.31150C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251287.3:c.2238C>A MANE Select ENSP00000251287.1:p.Leu746=
ENST00000251287.2:c.2238C>A ENSP00000251287.1:p.Leu746=
NM_001194.3:c.2238C>A NP_001185.3:p.Leu746=
NM_001194.4:c.2238C>A MANE Select NP_001185.3:p.Leu746=