Canonical Allele Identifier: CA402887270
Gene: HCN2 HGNC NCBI

Linked Data

dbSNP Id: rs1348244100
gnomAD v2: 19-616022-C-T
gnomAD v4: 19-616022-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.616022C>T , CM000681.2:g.616022C>T GRCh38
NC_000019.9:g.616022C>T , CM000681.1:g.616022C>T GRCh37
NC_000019.8:g.567022C>T NCBI36
NG_023049.1:g.22547G>A
NG_052810.1:g.31130C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251287.3:c.2218C>T MANE Select ENSP00000251287.1:p.Pro740Ser
ENST00000251287.2:c.2218C>T ENSP00000251287.1:p.Pro740Ser
NM_001194.3:c.2218C>T NP_001185.3:p.Pro740Ser
NM_001194.4:c.2218C>T MANE Select NP_001185.3:p.Pro740Ser