Canonical Allele Identifier: CA9018864
Gene: HCN2 HGNC NCBI

Linked Data

dbSNP Id: rs765070651
gnomAD v2: 19-615975-C-A
gnomAD v4: 19-615975-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.615975C>A , CM000681.2:g.615975C>A GRCh38
NC_000019.9:g.615975C>A , CM000681.1:g.615975C>A GRCh37
NC_000019.8:g.566975C>A NCBI36
NG_023049.1:g.22594G>T
NG_052810.1:g.31083C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251287.3:c.2171C>A MANE Select ENSP00000251287.1:p.Thr724Asn
ENST00000251287.2:c.2171C>A ENSP00000251287.1:p.Thr724Asn
NM_001194.3:c.2171C>A NP_001185.3:p.Thr724Asn
NM_001194.4:c.2171C>A MANE Select NP_001185.3:p.Thr724Asn