Canonical Allele Identifier: CA402887290
Gene: HCN2 HGNC NCBI

Linked Data

gnomAD v4: 19-616028-G-C
MyVariant Identifiers: chr19:g.616028G>C (hg19) chr19:g.616028G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.616028G>C , CM000681.2:g.616028G>C GRCh38
NC_000019.9:g.616028G>C , CM000681.1:g.616028G>C GRCh37
NC_000019.8:g.567028G>C NCBI36
NG_023049.1:g.22541C>G
NG_052810.1:g.31136G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251287.3:c.2224G>C MANE Select ENSP00000251287.1:p.Val742Leu
ENST00000251287.2:c.2224G>C ENSP00000251287.1:p.Val742Leu
NM_001194.3:c.2224G>C NP_001185.3:p.Val742Leu
NM_001194.4:c.2224G>C MANE Select NP_001185.3:p.Val742Leu
Search 100 bp 5'
Search 100 bp 3'