Canonical Allele Identifier: CA2573141812

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1570184
• ClinVar RCV Id: RCV002215183
• dbSNP Id: rs2117002143

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958044_150958045delinsTA , CM000669.2:g.150958044_150958045delinsTA	GRCh38
NC_000007.13:g.150655132_150655133delinsTA , CM000669.1:g.150655132_150655133delinsTA	GRCh37
NC_000007.12:g.150286065_150286066delinsTA	NCBI36
NG_008916.1:g.24882_24883delinsTA , LRG_288:g.24882_24883delinsTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1749+14_1749+15delinsTA
ENST00000262186.10:c.916+14_916+15delinsTA MANE Select	ENSP00000262186.5:n.916+14_916+15delinsTA...
ENST00000262186.9:c.916+14_916+15delinsTA	ENSP00000262186.5:n.916+14_916+15delinsTA...
ENST00000430723.4:c.568+14_568+15delinsTA	ENSP00000387657.4:n.568+14_568+15delinsTA...
ENST00000532957.5:n.1139+14_1139+15delinsTA
NM_000238.3:c.916+14_916+15delinsTA , LRG_288t1:c.916+14_916+15delinsTA	NP_000229.1:n.916+14_916+15delinsTA
NM_172056.2:c.916+14_916+15delinsTA , LRG_288t2:c.916+14_916+15delinsTA	NP_742053.1:n.916+14_916+15delinsTA
XM_011516185.1:c.616+14_616+15delinsTA	XP_011514487.1:n.616+14_616+15delinsTA
XM_011516186.1:c.916+14_916+15delinsTA	XP_011514488.1:n.916+14_916+15delinsTA
XM_011516185.2:c.616+14_616+15delinsTA	XP_011514487.1:n.616+14_616+15delinsTA
XM_011516186.3:c.916+14_916+15delinsTA	XP_011514488.1:n.916+14_916+15delinsTA
XM_017012195.1:c.766+14_766+15delinsTA	XP_016867684.1:n.766+14_766+15delinsTA
XM_017012196.1:c.739+14_739+15delinsTA	XP_016867685.1:n.739+14_739+15delinsTA
NM_000238.4:c.916+14_916+15delinsTA MANE Select	NP_000229.1:n.916+14_916+15delinsTA