Canonical Allele Identifier: CA9018874
Gene: HCN2 HGNC NCBI

Linked Data

dbSNP Id: rs748730111
ExAC: 19:615993 T / G
gnomAD v2: 19-615993-T-G
gnomAD v4: 19-615993-T-G
MyVariant Identifiers: chr19:g.615993T>G (hg19) chr19:g.615993T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.615993T>G , CM000681.2:g.615993T>G GRCh38
NC_000019.9:g.615993T>G , CM000681.1:g.615993T>G GRCh37
NC_000019.8:g.566993T>G NCBI36
NG_023049.1:g.22576A>C
NG_052810.1:g.31101T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251287.3:c.2189T>G MANE Select ENSP00000251287.1:p.Leu730Arg
ENST00000251287.2:c.2189T>G ENSP00000251287.1:p.Leu730Arg
NM_001194.3:c.2189T>G NP_001185.3:p.Leu730Arg
NM_001194.4:c.2189T>G MANE Select NP_001185.3:p.Leu730Arg
Search 100 bp 5'
Search 100 bp 3'