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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:
CA402882617
Gene: HCN2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr19:g.613858G>T (hg19)
chr19:g.613858G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.613858G>T , CM000681.2:g.613858G>T
GRCh38
NC_000019.9:g.613858G>T , CM000681.1:g.613858G>T
GRCh37
NC_000019.8:g.564858G>T
NCBI36
NG_052810.1:g.28966G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000251287.3:c.1832G>T
MANE Select
ENSP00000251287.1:p.Cys611Phe
ENST00000251287.2:c.1832G>T
ENSP00000251287.1:p.Cys611Phe
NM_001194.3:c.1832G>T
NP_001185.3:p.Cys611Phe
NM_001194.4:c.1832G>T
MANE Select
NP_001185.3:p.Cys611Phe
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