Canonical Allele Identifier: CA9018878
Gene: HCN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3104501
ClinVar RCV Id: RCV004399377
dbSNP Id: rs771136359
ExAC: 19:616007 G / A
gnomAD v2: 19-616007-G-A
gnomAD v3: 19-616007-G-A
gnomAD v4: 19-616007-G-A
MyVariant Identifiers: chr19:g.616007G>A (hg19) chr19:g.616007G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.616007G>A , CM000681.2:g.616007G>A GRCh38
NC_000019.9:g.616007G>A , CM000681.1:g.616007G>A GRCh37
NC_000019.8:g.567007G>A NCBI36
NG_023049.1:g.22562C>T
NG_052810.1:g.31115G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251287.3:c.2203G>A MANE Select ENSP00000251287.1:p.Ala735Thr
ENST00000251287.2:c.2203G>A ENSP00000251287.1:p.Ala735Thr
NM_001194.3:c.2203G>A NP_001185.3:p.Ala735Thr
NM_001194.4:c.2203G>A MANE Select NP_001185.3:p.Ala735Thr
Search 100 bp 5'
Search 100 bp 3'