Canonical Allele Identifier: CA005214
Gene: KCNH2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 67245
ClinVar RCV Id: RCV000057956
dbSNP Id: rs199473520

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951688A>G , CM000669.2:g.150951688A>G GRCh38
NC_000007.12:g.150279709A>G NCBI36
NC_000007.13:g.150648776A>G , CM000669.1:g.150648776A>G GRCh37
NG_008916.1:g.31239T>C , LRG_288:g.31239T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.9:c.1705T>C ENSP00000262186.5:p.Tyr569His
ENST00000330883.8:c.685T>C ENSP00000328531.4:p.Tyr229His
ENST00000430723.4:c.1357T>C ENSP00000387657.4:p.Tyr453His
ENST00000461280.1:n.992T>C
ENST00000473610.5:n.1010T>C
ENST00000532957.5:n.1928T>C
NM_000238.3:c.1705T>C , LRG_288t1:c.1705T>C NP_000229.1:p.Tyr569His
NM_001204798.1:c.685T>C VV NP_001191727.1:p.Tyr229His
NM_172056.2:c.1705T>C , LRG_288t2:c.1705T>C NP_742053.1:p.Tyr569His
NM_172057.2:c.685T>C , LRG_288t3:c.685T>C NP_742054.1:p.Tyr229His
XM_011516185.1:c.1405T>C XP_011514487.1:p.Tyr469His
XM_011516186.1:c.1705T>C XP_011514488.1:p.Tyr569His
XM_011516185.2:c.1405T>C
XM_011516186.3:c.1705T>C
XM_017012195.1:c.1555T>C XP_016867684.1:p.Tyr519His
XM_017012196.1:c.1528T>C XP_016867685.1:p.Tyr510His