Canonical Allele Identifier: CA9018860
Gene: HCN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2385939
ClinVar RCV Id: RCV002689758
dbSNP Id: rs760837694
ExAC: 19:615966 C / T
gnomAD v2: 19-615966-C-T
gnomAD v3: 19-615966-C-T
gnomAD v4: 19-615966-C-T
MyVariant Identifiers: chr19:g.615966C>T (hg19) chr19:g.615966C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.615966C>T , CM000681.2:g.615966C>T GRCh38
NC_000019.9:g.615966C>T , CM000681.1:g.615966C>T GRCh37
NC_000019.8:g.566966C>T NCBI36
NG_023049.1:g.22603G>A
NG_052810.1:g.31074C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251287.3:c.2162C>T MANE Select ENSP00000251287.1:p.Pro721Leu
ENST00000251287.2:c.2162C>T ENSP00000251287.1:p.Pro721Leu
NM_001194.3:c.2162C>T NP_001185.3:p.Pro721Leu
NM_001194.4:c.2162C>T MANE Select NP_001185.3:p.Pro721Leu
Search 100 bp 5'
Search 100 bp 3'