Canonical Allele Identifier: CA918162379

Gene: KCNH2

Linked Data

• dbSNP Id: rs1554425430

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950882_150950883delinsTG , CM000669.2:g.150950882_150950883delinsTG	GRCh38
NC_000007.13:g.150647970_150647971delinsTG , CM000669.1:g.150647970_150647971delinsTG	GRCh37
NC_000007.12:g.150278903_150278904delinsTG	NCBI36
NG_008916.1:g.32044_32045delinsCA , LRG_288:g.32044_32045delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1443+38_1443+39delinsCA
ENST00000683359.1:n.307_308delinsCA
ENST00000684241.1:n.2978+38_2978+39delinsCA
ENST00000262186.10:c.2145+38_2145+39delinsCA MANE Select	ENSP00000262186.5:n.2145+38_2145+39delins...
ENST00000330883.9:c.1125+38_1125+39delinsCA	ENSP00000328531.4:n.1125+38_1125+39delins...
ENST00000262186.9:c.2145+38_2145+39delinsCA	ENSP00000262186.5:n.2145+38_2145+39delins...
ENST00000330883.8:c.1125+38_1125+39delinsCA	ENSP00000328531.4:n.1125+38_1125+39delins...
ENST00000430723.4:c.1797+38_1797+39delinsCA	ENSP00000387657.4:n.1797+38_1797+39delins...
ENST00000461280.1:n.1432+38_1432+39delinsCA
ENST00000473610.5:n.1777+38_1777+39delinsCA
ENST00000532957.5:n.2368+38_2368+39delinsCA
NM_000238.3:c.2145+38_2145+39delinsCA , LRG_288t1:c.2145+38_2145+39delinsCA	NP_000229.1:n.2145+38_2145+39delinsCA
NM_001204798.1:c.1125+38_1125+39delinsCA	NP_001191727.1:n.1125+38_1125+39delinsCA
NM_172056.2:c.2145+38_2145+39delinsCA , LRG_288t2:c.2145+38_2145+39delinsCA	NP_742053.1:n.2145+38_2145+39delinsCA
NM_172057.2:c.1125+38_1125+39delinsCA , LRG_288t3:c.1125+38_1125+39delinsCA	NP_742054.1:n.1125+38_1125+39delinsCA
XM_011516185.1:c.1845+38_1845+39delinsCA	XP_011514487.1:n.1845+38_1845+39delinsCA
XM_011516186.1:c.2145+38_2145+39delinsCA	XP_011514488.1:n.2145+38_2145+39delinsCA
XM_011516185.2:c.1845+38_1845+39delinsCA	XP_011514487.1:n.1845+38_1845+39delinsCA
XM_011516186.3:c.2145+38_2145+39delinsCA	XP_011514488.1:n.2145+38_2145+39delinsCA
XM_017012195.1:c.1995+38_1995+39delinsCA	XP_016867684.1:n.1995+38_1995+39delinsCA
XM_017012196.1:c.1968+38_1968+39delinsCA	XP_016867685.1:n.1968+38_1968+39delinsCA
NM_000238.4:c.2145+38_2145+39delinsCA MANE Select	NP_000229.1:n.2145+38_2145+39delinsCA
NM_001204798.2:c.1125+38_1125+39delinsCA	NP_001191727.1:n.1125+38_1125+39delinsCA
NM_172057.3:c.1125+38_1125+39delinsCA	NP_742054.1:n.1125+38_1125+39delinsCA