Canonical Allele Identifier: CA1139660322

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 955885
• ClinVar RCV Id: RCV001228604
• dbSNP Id: rs1801449253

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958267_150958268del , CM000669.2:g.150958267_150958268del	GRCh38
NC_000007.13:g.150655355_150655356del , CM000669.1:g.150655355_150655356del	GRCh37
NC_000007.12:g.150286288_150286289del	NCBI36
NG_008916.1:g.24659_24660del , LRG_288:g.24659_24660del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1540_1541del
ENST00000262186.10:c.707_708del MANE Select	ENSP00000262186.5:p.Gly236AlafsTer?
ENST00000262186.9:c.707_708del	ENSP00000262186.5:p.Gly236AlafsTer?
ENST00000430723.4:c.359_360del	ENSP00000387657.4:p.Gly120AlafsTer?
ENST00000532957.5:n.930_931del
NM_000238.3:c.707_708del , LRG_288t1:c.707_708del	NP_000229.1:p.Gly236AlafsTer?
NM_172056.2:c.707_708del , LRG_288t2:c.707_708del	NP_742053.1:p.Gly236AlafsTer?
XM_011516185.1:c.407_408del	XP_011514487.1:p.Gly136AlafsTer?
XM_011516186.1:c.707_708del	XP_011514488.1:p.Gly236AlafsTer?
XM_011516185.2:c.407_408del	XP_011514487.1:p.Gly136AlafsTer?
XM_011516186.3:c.707_708del	XP_011514488.1:p.Gly236AlafsTer?
XM_017012195.1:c.557_558del	XP_016867684.1:p.Gly186AlafsTer?
XM_017012196.1:c.530_531del	XP_016867685.1:p.Gly177AlafsTer?
NM_000238.4:c.707_708del MANE Select	NP_000229.1:p.Gly236AlafsTer?