Canonical Allele Identifier: CA1752452872

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150970061_150970063delinsTTC , CM000669.2:g.150970061_150970063delinsTTC	GRCh38
NC_000007.13:g.150667149_150667151delinsTTC , CM000669.1:g.150667149_150667151delinsTTC	GRCh37
NC_000007.12:g.150298082_150298084delinsTTC	NCBI36
NG_008916.1:g.12864_12866delinsGAA , LRG_288:g.12864_12866delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.307+4648_307+4650delinsGAA MANE Select	ENSP00000262186.5:n.307+4648_307+4650delinsGAA
ENST00000262186.9:c.307+4648_307+4650delinsGAA	ENSP00000262186.5:n.307+4648_307+4650delinsGAA
ENST00000430723.4:c.130+4648_130+4650delinsGAA	ENSP00000387657.4:n.130+4648_130+4650delinsGAA
ENST00000532957.5:n.530+4648_530+4650delinsGAA
NM_000238.3:c.307+4648_307+4650delinsGAA , LRG_288t1:c.307+4648_307+4650delinsGAA	NP_000229.1:n.307+4648_307+4650delinsGAA
NM_172056.2:c.307+4648_307+4650delinsGAA , LRG_288t2:c.307+4648_307+4650delinsGAA	NP_742053.1:n.307+4648_307+4650delinsGAA
XM_011516185.1:c.7+4307_7+4309delinsGAA	XP_011514487.1:n.7+4307_7+4309delinsGAA
XM_011516186.1:c.307+4648_307+4650delinsGAA	XP_011514488.1:n.307+4648_307+4650delinsGAA
XM_011516185.2:c.7+4307_7+4309delinsGAA	XP_011514487.1:n.7+4307_7+4309delinsGAA
XM_011516186.3:c.307+4648_307+4650delinsGAA	XP_011514488.1:n.307+4648_307+4650delinsGAA
XM_017012196.1:c.130+4648_130+4650delinsGAA	XP_016867685.1:n.130+4648_130+4650delinsGAA
NM_000238.4:c.307+4648_307+4650delinsGAA MANE Select	NP_000229.1:n.307+4648_307+4650delinsGAA