Canonical Allele Identifier: CA9018880

Gene: HCN2

Linked Data

• dbSNP Id: rs759510436
• ExAC: 19:616023 C / T
• gnomAD v2: 19-616023-C-T
• gnomAD v4: 19-616023-C-T
• MyVariant Identifiers: chr19:g.616023C>T (hg19) ; chr19:g.616023C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.616023C>T , CM000681.2:g.616023C>T	GRCh38
NC_000019.9:g.616023C>T , CM000681.1:g.616023C>T	GRCh37
NC_000019.8:g.567023C>T	NCBI36
NG_023049.1:g.22546G>A
NG_052810.1:g.31131C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251287.3:c.2219C>T MANE Select	ENSP00000251287.1:p.Pro740Leu
ENST00000251287.2:c.2219C>T	ENSP00000251287.1:p.Pro740Leu
NM_001194.3:c.2219C>T	NP_001185.3:p.Pro740Leu
NM_001194.4:c.2219C>T MANE Select	NP_001185.3:p.Pro740Leu