Canonical Allele Identifier: CA1752445767

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977661_150977662delinsGC , CM000669.2:g.150977661_150977662delinsGC	GRCh38
NC_000007.13:g.150674749_150674750delinsGC , CM000669.1:g.150674749_150674750delinsGC	GRCh37
NC_000007.12:g.150305682_150305683delinsGC	NCBI36
NG_008916.1:g.5265_5266delinsGC , LRG_288:g.5265_5266delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.76+176_76+177delinsGC MANE Select	ENSP00000262186.5:n.76+176_76+177delinsGC
ENST00000262186.9:c.76+176_76+177delinsGC	ENSP00000262186.5:n.76+176_76+177delinsGC
ENST00000430723.4:c.-102+176_-102+177delinsGC	ENSP00000387657.4:n.-102+176_-102+177delinsGC
ENST00000532957.5:n.299+176_299+177delinsGC
NM_000238.3:c.76+176_76+177delinsGC , LRG_288t1:c.76+176_76+177delinsGC	NP_000229.1:n.76+176_76+177delinsGC
NM_172056.2:c.76+176_76+177delinsGC , LRG_288t2:c.76+176_76+177delinsGC	NP_742053.1:n.76+176_76+177delinsGC
XM_011516186.1:c.76+176_76+177delinsGC	XP_011514488.1:n.76+176_76+177delinsGC
XM_011516186.3:c.76+176_76+177delinsGC	XP_011514488.1:n.76+176_76+177delinsGC
NM_000238.4:c.76+176_76+177delinsGC MANE Select	NP_000229.1:n.76+176_76+177delinsGC