Canonical Allele Identifier: CA2516868901

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977363_150977364del , CM000669.2:g.150977363_150977364del	GRCh38
NC_000007.13:g.150674451_150674452del , CM000669.1:g.150674451_150674452del	GRCh37
NC_000007.12:g.150305384_150305385del	NCBI36
NG_008916.1:g.5564_5565del , LRG_288:g.5564_5565del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.76+475_76+476del MANE Select	ENSP00000262186.5:n.76+475_76+476del
ENST00000262186.9:c.76+475_76+476del	ENSP00000262186.5:n.76+475_76+476del
ENST00000430723.4:c.-102+475_-102+476del	ENSP00000387657.4:n.-102+475_-102+476del
ENST00000532957.5:n.299+475_299+476del
NM_000238.3:c.76+475_76+476del , LRG_288t1:c.76+475_76+476del	NP_000229.1:n.76+475_76+476del
NM_172056.2:c.76+475_76+476del , LRG_288t2:c.76+475_76+476del	NP_742053.1:n.76+475_76+476del
XM_011516186.1:c.76+475_76+476del	XP_011514488.1:n.76+475_76+476del
XM_011516186.3:c.76+475_76+476del	XP_011514488.1:n.76+475_76+476del
NM_000238.4:c.76+475_76+476del MANE Select	NP_000229.1:n.76+475_76+476del