Canonical Allele Identifier: CA402887381
Gene: HCN2 HGNC NCBI

Linked Data

dbSNP Id: rs1253257089
gnomAD v3: 19-616050-C-T
gnomAD v4: 19-616050-C-T
MyVariant Identifiers: chr19:g.616050C>T (hg19) chr19:g.616050C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.616050C>T , CM000681.2:g.616050C>T GRCh38
NC_000019.9:g.616050C>T , CM000681.1:g.616050C>T GRCh37
NC_000019.8:g.567050C>T NCBI36
NG_023049.1:g.22519G>A
NG_052810.1:g.31158C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251287.3:c.2246C>T MANE Select ENSP00000251287.1:p.Pro749Leu
ENST00000251287.2:c.2246C>T ENSP00000251287.1:p.Pro749Leu
NM_001194.3:c.2246C>T NP_001185.3:p.Pro749Leu
NM_001194.4:c.2246C>T MANE Select NP_001185.3:p.Pro749Leu
Search 100 bp 5'
Search 100 bp 3'