Canonical Allele Identifier: CA2695208625

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957470_150957489del , CM000669.2:g.150957470_150957489del	GRCh38
NC_000007.13:g.150654558_150654577del , CM000669.1:g.150654558_150654577del	GRCh37
NC_000007.12:g.150285491_150285510del	NCBI36
NG_008916.1:g.25441_25460del , LRG_288:g.25441_25460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1766_1785del
ENST00000262186.10:c.933_952del MANE Select	ENSP00000262186.5:p.Arg312HisfsTer13
ENST00000262186.9:c.933_952del	ENSP00000262186.5:p.Arg312HisfsTer13
ENST00000430723.4:c.585_604del	ENSP00000387657.4:p.Arg196HisfsTer13
ENST00000532957.5:n.1156_1175del
NM_000238.3:c.933_952del , LRG_288t1:c.933_952del	NP_000229.1:p.Arg312HisfsTer13
NM_172056.2:c.933_952del , LRG_288t2:c.933_952del	NP_742053.1:p.Arg312HisfsTer13
XM_011516185.1:c.633_652del	XP_011514487.1:p.Arg212HisfsTer13
XM_011516186.1:c.933_952del	XP_011514488.1:p.Arg312HisfsTer13
XM_011516185.2:c.633_652del	XP_011514487.1:p.Arg212HisfsTer13
XM_011516186.3:c.933_952del	XP_011514488.1:p.Arg312HisfsTer13
XM_017012195.1:c.783_802del	XP_016867684.1:p.Arg262HisfsTer13
XM_017012196.1:c.756_775del	XP_016867685.1:p.Arg253HisfsTer13
NM_000238.4:c.933_952del MANE Select	NP_000229.1:p.Arg312HisfsTer13