Canonical Allele Identifier: CA9018841
Gene: HCN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 252561
ClinVar RCV Id: RCV000239034 RCV000884646 RCV001640392
dbSNP Id: rs527536363
ExAC: 19:615946 CCCGCCGCCG / C
gnomAD v2: 19-615946-CCCGCCGCCG-C
gnomAD v3: 19-615946-CCCGCCGCCG-C
gnomAD v4: 19-615946-CCCGCCGCCG-C
COSMIC: COSM1002830
MyVariant Identifiers: chr19:g.615960_615968del (hg19) chr19:g.615950_615958del (hg19) chr19:g.615947_615955del (hg19) chr19:g.615960_615968del (hg38) chr19:g.615950_615958del (hg38) chr19:g.615948_615956del (hg38) chr19:g.615947_615955del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.615960_615968del , CM000681.2:g.615960_615968del GRCh38
NC_000019.9:g.615960_615968del , CM000681.1:g.615960_615968del GRCh37
NC_000019.8:g.566960_566968del NCBI36
NG_023049.1:g.22614_22622del
NG_052810.1:g.31068_31076del

Transcript Alleles

HGVS Amino-acid change
ENST00000251287.3:c.2156_2164del MANE Select ENSP00000251287.1:p.Pro719_Pro721del
ENST00000251287.2:c.2156_2164del ENSP00000251287.1:p.Pro719_Pro721del
NM_001194.3:c.2156_2164del NP_001185.3:p.Pro719_Pro721del
NM_001194.4:c.2156_2164del MANE Select NP_001185.3:p.Pro719_Pro721del
Search 100 bp 5'
Search 100 bp 3'