Canonical Allele Identifier: CA204241
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207941
ClinVar RCV Id: RCV000190216
dbSNP Id: rs796052196

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974709A>T , CM000669.2:g.150974709A>T GRCh38
NC_000007.13:g.150671797A>T , CM000669.1:g.150671797A>T GRCh37
NC_000007.12:g.150302730A>T NCBI36
NG_008916.1:g.8218T>A , LRG_288:g.8218T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.307+2T>A MANE Select ENSP00000262186.5:n.307+2T>A
ENST00000262186.9:c.307+2T>A ENSP00000262186.5:n.307+2T>A
ENST00000430723.4:c.130+2T>A ENSP00000387657.4:n.130+2T>A
ENST00000532957.5:n.530+2T>A
NM_000238.3:c.307+2T>A , LRG_288t1:c.307+2T>A NP_000229.1:n.307+2T>A
NM_172056.2:c.307+2T>A , LRG_288t2:c.307+2T>A NP_742053.1:n.307+2T>A
XM_011516186.1:c.307+2T>A XP_011514488.1:n.307+2T>A
XM_011516186.3:c.307+2T>A XP_011514488.1:n.307+2T>A
XM_017012196.1:c.130+2T>A XP_016867685.1:n.130+2T>A
NM_000238.4:c.307+2T>A MANE Select NP_000229.1:n.307+2T>A