Canonical Allele Identifier: CA9018715
Gene: HCN2 HGNC NCBI

Linked Data

dbSNP Id: rs142446533
gnomAD v2: 19-613943-C-T
gnomAD v3: 19-613943-C-T
gnomAD v4: 19-613943-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.613943C>T , CM000681.2:g.613943C>T GRCh38
NC_000019.9:g.613943C>T , CM000681.1:g.613943C>T GRCh37
NC_000019.8:g.564943C>T NCBI36
NG_052810.1:g.29051C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000251287.3:c.1917C>T MANE Select ENSP00000251287.1:p.Asn639=
ENST00000251287.2:c.1917C>T ENSP00000251287.1:p.Asn639=
NM_001194.3:c.1917C>T NP_001185.3:p.Asn639=
NM_001194.4:c.1917C>T MANE Select NP_001185.3:p.Asn639=