Canonical Allele Identifier: CA2695208626

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957492del , CM000669.2:g.150957492del	GRCh38
NC_000007.13:g.150654580del , CM000669.1:g.150654580del	GRCh37
NC_000007.12:g.150285513del	NCBI36
NG_008916.1:g.25437del , LRG_288:g.25437del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1762del
ENST00000262186.10:c.929del MANE Select	ENSP00000262186.5:p.Pro310HisfsTer?
ENST00000262186.9:c.929del	ENSP00000262186.5:p.Pro310HisfsTer?
ENST00000430723.4:c.581del	ENSP00000387657.4:p.Pro194HisfsTer?
ENST00000532957.5:n.1152del
NM_000238.3:c.929del , LRG_288t1:c.929del	NP_000229.1:p.Pro310HisfsTer?
NM_172056.2:c.929del , LRG_288t2:c.929del	NP_742053.1:p.Pro310HisfsTer?
XM_011516185.1:c.629del	XP_011514487.1:p.Pro210HisfsTer?
XM_011516186.1:c.929del	XP_011514488.1:p.Pro310HisfsTer?
XM_011516185.2:c.629del	XP_011514487.1:p.Pro210HisfsTer?
XM_011516186.3:c.929del	XP_011514488.1:p.Pro310HisfsTer?
XM_017012195.1:c.779del	XP_016867684.1:p.Pro260HisfsTer?
XM_017012196.1:c.752del	XP_016867685.1:p.Pro251HisfsTer?
NM_000238.4:c.929del MANE Select	NP_000229.1:p.Pro310HisfsTer?