Canonical Allele Identifier: CA9018877

Gene: HCN2

Linked Data

• dbSNP Id: rs558779080
• ExAC: 19:616005 C / T
• gnomAD v2: 19-616005-C-T
• gnomAD v3: 19-616005-C-T
• gnomAD v4: 19-616005-C-T
• MyVariant Identifiers: chr19:g.616005C>T (hg19) ; chr19:g.616005C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.616005C>T , CM000681.2:g.616005C>T	GRCh38
NC_000019.9:g.616005C>T , CM000681.1:g.616005C>T	GRCh37
NC_000019.8:g.567005C>T	NCBI36
NG_023049.1:g.22564G>A
NG_052810.1:g.31113C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251287.3:c.2201C>T MANE Select	ENSP00000251287.1:p.Ala734Val
ENST00000251287.2:c.2201C>T	ENSP00000251287.1:p.Ala734Val
NM_001194.3:c.2201C>T	NP_001185.3:p.Ala734Val
NM_001194.4:c.2201C>T MANE Select	NP_001185.3:p.Ala734Val