Canonical Allele Identifier: CA402887392
Gene: HCN2 HGNC NCBI

Linked Data

dbSNP Id: rs2144539821
gnomAD v4: 19-616053-T-C
MyVariant Identifiers: chr19:g.616053T>C (hg19) chr19:g.616053T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.616053T>C , CM000681.2:g.616053T>C GRCh38
NC_000019.9:g.616053T>C , CM000681.1:g.616053T>C GRCh37
NC_000019.8:g.567053T>C NCBI36
NG_023049.1:g.22516A>G
NG_052810.1:g.31161T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251287.3:c.2249T>C MANE Select ENSP00000251287.1:p.Leu750Pro
ENST00000251287.2:c.2249T>C ENSP00000251287.1:p.Leu750Pro
NM_001194.3:c.2249T>C NP_001185.3:p.Leu750Pro
NM_001194.4:c.2249T>C MANE Select NP_001185.3:p.Leu750Pro
Search 100 bp 5'
Search 100 bp 3'