Canonical Allele Identifier: CA884073979
Gene: HCN2 HGNC NCBI

Linked Data

dbSNP Id: rs1436464213
gnomAD v3: 19-616047-GGCCGCTGGCGCTCGGCTCGCCGCGCCTCGTGC-G
gnomAD v4: 19-616047-GGCCGCTGGCGCTCGGCTCGCCGCGCCTCGTGC-G
MyVariant Identifiers: chr19:g.616048_616079del (hg19) chr19:g.616048_616079del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.616053_616084del , CM000681.2:g.616053_616084del GRCh38
NC_000019.9:g.616053_616084del , CM000681.1:g.616053_616084del GRCh37
NC_000019.8:g.567053_567084del NCBI36
NG_023049.1:g.22490_22521del
NG_052810.1:g.31161_31192del

Transcript Alleles

HGVS Amino-acid Change
ENST00000251287.3:c.2249_2280del MANE Select ENSP00000251287.1:p.Leu750ProfsTer?
ENST00000251287.2:c.2249_2280del ENSP00000251287.1:p.Leu750ProfsTer?
NM_001194.3:c.2249_2280del NP_001185.3:p.Leu750ProfsTer?
NM_001194.4:c.2249_2280del MANE Select NP_001185.3:p.Leu750ProfsTer?
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