Canonical Allele Identifier: CA2778426479

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977617_150977618del , CM000669.2:g.150977617_150977618del	GRCh38
NC_000007.13:g.150674705_150674706del , CM000669.1:g.150674705_150674706del	GRCh37
NC_000007.12:g.150305638_150305639del	NCBI36
NG_008916.1:g.5310_5311del , LRG_288:g.5310_5311del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.76+221_76+222del MANE Select	ENSP00000262186.5:n.76+221_76+222del
ENST00000262186.9:c.76+221_76+222del	ENSP00000262186.5:n.76+221_76+222del
ENST00000430723.4:c.-102+221_-102+222del	ENSP00000387657.4:n.-102+221_-102+222del
ENST00000532957.5:n.299+221_299+222del
NM_000238.3:c.76+221_76+222del , LRG_288t1:c.76+221_76+222del	NP_000229.1:n.76+221_76+222del
NM_172056.2:c.76+221_76+222del , LRG_288t2:c.76+221_76+222del	NP_742053.1:n.76+221_76+222del
XM_011516186.1:c.76+221_76+222del	XP_011514488.1:n.76+221_76+222del
XM_011516186.3:c.76+221_76+222del	XP_011514488.1:n.76+221_76+222del
NM_000238.4:c.76+221_76+222del MANE Select	NP_000229.1:n.76+221_76+222del