Canonical Allele Identifier: CA923726115

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951575_150951576insA , CM000669.2:g.150951575_150951576insA	GRCh38
NC_000007.13:g.150648663_150648664insA , CM000669.1:g.150648663_150648664insA	GRCh37
NC_000007.12:g.150279596_150279597insA	NCBI36
NG_008916.1:g.31351_31352insT , LRG_288:g.31351_31352insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1115_1116insT
ENST00000684241.1:n.2650_2651insT
ENST00000262186.10:c.1817_1818insT MANE Select	ENSP00000262186.5:p.Ile607HisfsTer?
ENST00000330883.9:c.797_798insT	ENSP00000328531.4:p.Ile267HisfsTer?
ENST00000262186.9:c.1817_1818insT	ENSP00000262186.5:p.Ile607HisfsTer?
ENST00000330883.8:c.797_798insT	ENSP00000328531.4:p.Ile267HisfsTer?
ENST00000430723.4:c.1469_1470insT	ENSP00000387657.4:p.Ile491HisfsTer?
ENST00000461280.1:n.1104_1105insT
ENST00000473610.5:n.1122_1123insT
ENST00000532957.5:n.2040_2041insT
NM_000238.3:c.1817_1818insT , LRG_288t1:c.1817_1818insT	NP_000229.1:p.Ile607HisfsTer?
NM_001204798.1:c.797_798insT	NP_001191727.1:p.Ile267HisfsTer?
NM_172056.2:c.1817_1818insT , LRG_288t2:c.1817_1818insT	NP_742053.1:p.Ile607HisfsTer?
NM_172057.2:c.797_798insT , LRG_288t3:c.797_798insT	NP_742054.1:p.Ile267HisfsTer?
XM_011516185.1:c.1517_1518insT	XP_011514487.1:p.Ile507HisfsTer?
XM_011516186.1:c.1817_1818insT	XP_011514488.1:p.Ile607HisfsTer?
XM_011516185.2:c.1517_1518insT	XP_011514487.1:p.Ile507HisfsTer?
XM_011516186.3:c.1817_1818insT	XP_011514488.1:p.Ile607HisfsTer?
XM_017012195.1:c.1667_1668insT	XP_016867684.1:p.Ile557HisfsTer?
XM_017012196.1:c.1640_1641insT	XP_016867685.1:p.Ile548HisfsTer?
NM_000238.4:c.1817_1818insT MANE Select	NP_000229.1:p.Ile607HisfsTer?
NM_001204798.2:c.797_798insT	NP_001191727.1:p.Ile267HisfsTer?
NM_172057.3:c.797_798insT	NP_742054.1:p.Ile267HisfsTer?