Canonical Allele Identifier: CA504875825
Gene: HCN2 HGNC NCBI

Linked Data

dbSNP Id: rs1460452369
gnomAD v3: 19-615982-C-T
gnomAD v4: 19-615982-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.615982C>T , CM000681.2:g.615982C>T GRCh38
NC_000019.9:g.615982C>T , CM000681.1:g.615982C>T GRCh37
NC_000019.8:g.566982C>T NCBI36
NG_023049.1:g.22587G>A
NG_052810.1:g.31090C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251287.3:c.2178C>T MANE Select ENSP00000251287.1:p.Ala726=
ENST00000251287.2:c.2178C>T ENSP00000251287.1:p.Ala726=
NM_001194.3:c.2178C>T NP_001185.3:p.Ala726=
NM_001194.4:c.2178C>T MANE Select NP_001185.3:p.Ala726=