Canonical Allele Identifier: CA2573141869

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951700_150951701delinsTC , CM000669.2:g.150951700_150951701delinsTC	GRCh38
NC_000007.13:g.150648788_150648789delinsTC , CM000669.1:g.150648788_150648789delinsTC	GRCh37
NC_000007.12:g.150279721_150279722delinsTC	NCBI36
NG_008916.1:g.31226_31227delinsGA , LRG_288:g.31226_31227delinsGA

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.1692_1693delinsGA MANE Select	NP_000229.1:p.Ala565Thr
ENST00000262186.10:c.1692_1693delinsGA MANE Select	ENSP00000262186.5:p.Ala565Thr
NM_000238.3:c.1692_1693delinsGA , LRG_288t1:c.1692_1693delinsGA	NP_000229.1:p.Ala565Thr
NM_001204798.1:c.672_673delinsGA	NP_001191727.1:p.Ala225Thr
NM_001204798.2:c.672_673delinsGA	NP_001191727.1:p.Ala225Thr
NM_172056.2:c.1692_1693delinsGA , LRG_288t2:c.1692_1693delinsGA	NP_742053.1:p.Ala565Thr
NM_172057.2:c.672_673delinsGA , LRG_288t3:c.672_673delinsGA	NP_742054.1:p.Ala225Thr
NM_172057.3:c.672_673delinsGA	NP_742054.1:p.Ala225Thr
ENST00000262186.9:c.1692_1693delinsGA	ENSP00000262186.5:p.Ala565Thr
ENST00000330883.8:c.672_673delinsGA	ENSP00000328531.4:p.Ala225Thr
ENST00000330883.9:c.672_673delinsGA	ENSP00000328531.4:p.Ala225Thr
ENST00000430723.4:c.1344_1345delinsGA	ENSP00000387657.4:p.Ala449Thr
ENST00000461280.1:n.979_980delinsGA
ENST00000461280.2:n.990_991delinsGA
ENST00000473610.5:n.997_998delinsGA
ENST00000532957.5:n.1915_1916delinsGA
ENST00000684241.1:n.2525_2526delinsGA
XM_011516185.1:c.1392_1393delinsGA	XP_011514487.1:p.Ala465Thr
XM_011516185.2:c.1392_1393delinsGA	XP_011514487.1:p.Ala465Thr
XM_011516186.1:c.1692_1693delinsGA	XP_011514488.1:p.Ala565Thr
XM_011516186.3:c.1692_1693delinsGA	XP_011514488.1:p.Ala565Thr
XM_017012195.1:c.1542_1543delinsGA	XP_016867684.1:p.Ala515Thr
XM_017012196.1:c.1515_1516delinsGA	XP_016867685.1:p.Ala506Thr