Canonical Allele Identifier: CA1752431717

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948753_150948754delinsGA , CM000669.2:g.150948753_150948754delinsGA	GRCh38
NC_000007.13:g.150645841_150645842delinsGA , CM000669.1:g.150645841_150645842delinsGA	GRCh37
NC_000007.12:g.150276774_150276775delinsGA	NCBI36
NG_008916.1:g.34173_34174delinsTC , LRG_288:g.34173_34174delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3425+102_3425+103delinsTC
ENST00000262186.10:c.2592+102_2592+103delinsTC MANE Select	ENSP00000262186.5:n.2592+102_2592+103delinsTC
ENST00000330883.9:c.1572+102_1572+103delinsTC	ENSP00000328531.4:n.1572+102_1572+103delinsTC
ENST00000262186.9:c.2592+102_2592+103delinsTC	ENSP00000262186.5:n.2592+102_2592+103delinsTC
ENST00000330883.8:c.1572+102_1572+103delinsTC	ENSP00000328531.4:n.1572+102_1572+103delinsTC
NM_000238.3:c.2592+102_2592+103delinsTC , LRG_288t1:c.2592+102_2592+103delinsTC	NP_000229.1:n.2592+102_2592+103delinsTC
NM_172057.2:c.1572+102_1572+103delinsTC , LRG_288t3:c.1572+102_1572+103delinsTC	NP_742054.1:n.1572+102_1572+103delinsTC
XM_011516185.1:c.2292+102_2292+103delinsTC	XP_011514487.1:n.2292+102_2292+103delinsTC
XM_011516186.1:c.2592+102_2592+103delinsTC	XP_011514488.1:n.2592+102_2592+103delinsTC
XM_011516185.2:c.2292+102_2292+103delinsTC	XP_011514487.1:n.2292+102_2292+103delinsTC
XM_011516186.3:c.2592+102_2592+103delinsTC	XP_011514488.1:n.2592+102_2592+103delinsTC
XM_017012195.1:c.2442+102_2442+103delinsTC	XP_016867684.1:n.2442+102_2442+103delinsTC
XM_017012196.1:c.2415+102_2415+103delinsTC	XP_016867685.1:n.2415+102_2415+103delinsTC
NM_000238.4:c.2592+102_2592+103delinsTC MANE Select	NP_000229.1:n.2592+102_2592+103delinsTC
NM_172057.3:c.1572+102_1572+103delinsTC	NP_742054.1:n.1572+102_1572+103delinsTC