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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA9018687
Gene: HCN2
HGNC
NCBI
Linked Data
dbSNP Id:
rs750184908
ExAC:
19:613856 C / A
gnomAD v2:
19-613856-C-A
gnomAD v4:
19-613856-C-A
MyVariant Identifiers:
chr19:g.613856C>A (hg19)
chr19:g.613856C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.613856C>A , CM000681.2:g.613856C>A
GRCh38
NC_000019.9:g.613856C>A , CM000681.1:g.613856C>A
GRCh37
NC_000019.8:g.564856C>A
NCBI36
NG_052810.1:g.28964C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000251287.3:c.1830C>A
MANE Select
ENSP00000251287.1:p.Ile610=
ENST00000251287.2:c.1830C>A
ENSP00000251287.1:p.Ile610=
NM_001194.3:c.1830C>A
NP_001185.3:p.Ile610=
NM_001194.4:c.1830C>A
MANE Select
NP_001185.3:p.Ile610=
Search 100 bp 5'
Search 100 bp 3'