Canonical Allele Identifier: CA2579062742

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949119del , CM000669.2:g.150949119del	GRCh38
NC_000007.13:g.150646207del , CM000669.1:g.150646207del	GRCh37
NC_000007.12:g.150277140del	NCBI36
NG_008916.1:g.33810del , LRG_288:g.33810del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3232-68del
ENST00000262186.10:c.2399-68del MANE Select	ENSP00000262186.5:n.2399-68del
ENST00000330883.9:c.1379-68del	ENSP00000328531.4:n.1379-68del
ENST00000262186.9:c.2399-68del	ENSP00000262186.5:n.2399-68del
ENST00000330883.8:c.1379-68del	ENSP00000328531.4:n.1379-68del
NM_000238.3:c.2399-68del , LRG_288t1:c.2399-68del	NP_000229.1:n.2399-68del
NM_172057.2:c.1379-68del , LRG_288t3:c.1379-68del	NP_742054.1:n.1379-68del
XM_011516185.1:c.2099-68del	XP_011514487.1:n.2099-68del
XM_011516186.1:c.2399-68del	XP_011514488.1:n.2399-68del
XM_011516185.2:c.2099-68del	XP_011514487.1:n.2099-68del
XM_011516186.3:c.2399-68del	XP_011514488.1:n.2399-68del
XM_017012195.1:c.2249-68del	XP_016867684.1:n.2249-68del
XM_017012196.1:c.2222-68del	XP_016867685.1:n.2222-68del
NM_000238.4:c.2399-68del MANE Select	NP_000229.1:n.2399-68del
NM_172057.3:c.1379-68del	NP_742054.1:n.1379-68del