Canonical Allele Identifier: CA9018859
Gene: HCN2 HGNC NCBI

Linked Data

dbSNP Id: rs1568370236
ExAC: 19:615964 GCCGCAGGTCACCTCGGCCATCGCCACGCTGCAGCAGGCGGCGGCCATGAGCTTCTGC / G
gnomAD v2: 19-615964-GCCGCAGGTCACCTCGGCCATCGCCACGCTGCAGCAGGCGGCGGCCATGAGCTTCTGC-G
gnomAD v4: 19-615964-GCCGCAGGTCACCTCGGCCATCGCCACGCTGCAGCAGGCGGCGGCCATGAGCTTCTGC-G
MyVariant Identifiers: chr19:g.615965_616021del (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.615973_616029del , CM000681.2:g.615973_616029del GRCh38
NC_000019.9:g.615973_616029del , CM000681.1:g.615973_616029del GRCh37
NC_000019.8:g.566973_567029del NCBI36
NG_023049.1:g.22548_22604del
NG_052810.1:g.31081_31137del

Transcript Alleles

HGVS Amino-acid Change
ENST00000251287.3:c.2169_2225del MANE Select ENSP00000251287.1:p.Thr724_Val742del
ENST00000251287.2:c.2169_2225del ENSP00000251287.1:p.Thr724_Val742del
NM_001194.3:c.2169_2225del NP_001185.3:p.Thr724_Val742del
NM_001194.4:c.2169_2225del MANE Select NP_001185.3:p.Thr724_Val742del
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