Canonical Allele Identifier: CA579075209

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947802del , CM000669.2:g.150947802del	GRCh38
NC_000007.13:g.150644890del , CM000669.1:g.150644890del	GRCh37
NC_000007.12:g.150275823del	NCBI36
NG_008916.1:g.35131del , LRG_288:g.35131del

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.2775del MANE Select	NP_000229.1:p.Pro926ArgfsTer?
ENST00000262186.10:c.2775del MANE Select	ENSP00000262186.5:p.Pro926ArgfsTer?
NM_000238.3:c.2775del , LRG_288t1:c.2775del	NP_000229.1:p.Pro926ArgfsTer?
NM_172057.2:c.1755del , LRG_288t3:c.1755del	NP_742054.1:p.Pro586ArgfsTer?
NM_172057.3:c.1755del	NP_742054.1:p.Pro586ArgfsTer?
ENST00000262186.9:c.2775del	ENSP00000262186.5:p.Pro926ArgfsTer?
ENST00000330883.8:c.1755del	ENSP00000328531.4:p.Pro586ArgfsTer?
ENST00000330883.9:c.1755del	ENSP00000328531.4:p.Pro586ArgfsTer?
ENST00000684241.1:n.3608del
XM_011516185.1:c.2475del	XP_011514487.1:p.Pro826ArgfsTer?
XM_011516185.2:c.2475del	XP_011514487.1:p.Pro826ArgfsTer?
XM_011516186.1:c.2693-105del	XP_011514488.1:n.2693-105del
XM_011516186.3:c.2693-105del	XP_011514488.1:n.2693-105del
XM_017012195.1:c.2625del	XP_016867684.1:p.Pro876ArgfsTer?
XM_017012196.1:c.2598del	XP_016867685.1:p.Pro867ArgfsTer?