Canonical Allele Identifier: CA2499218814

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1069329
• ClinVar RCV Id: RCV001381148
• dbSNP Id: rs2117006599

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958423_150958435del , CM000669.2:g.150958423_150958435del	GRCh38
NC_000007.13:g.150655511_150655523del , CM000669.1:g.150655511_150655523del	GRCh37
NC_000007.12:g.150286444_150286456del	NCBI36
NG_008916.1:g.24496_24508del , LRG_288:g.24496_24508del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1377_1389del
ENST00000262186.10:c.544_556del MANE Select	ENSP00000262186.5:p.Ser182AlafsTer15
ENST00000262186.9:c.544_556del	ENSP00000262186.5:p.Ser182AlafsTer15
ENST00000430723.4:c.235-39_235-27del	ENSP00000387657.4:n.235-39_235-27del
ENST00000532957.5:n.767_779del
NM_000238.3:c.544_556del , LRG_288t1:c.544_556del	NP_000229.1:p.Ser182AlafsTer15
NM_172056.2:c.544_556del , LRG_288t2:c.544_556del	NP_742053.1:p.Ser182AlafsTer15
XM_011516185.1:c.244_256del	XP_011514487.1:p.Ser82AlafsTer15
XM_011516186.1:c.544_556del	XP_011514488.1:p.Ser182AlafsTer15
XM_011516185.2:c.244_256del	XP_011514487.1:p.Ser82AlafsTer15
XM_011516186.3:c.544_556del	XP_011514488.1:p.Ser182AlafsTer15
XM_017012195.1:c.394_406del	XP_016867684.1:p.Ser132AlafsTer15
XM_017012196.1:c.367_379del	XP_016867685.1:p.Ser123AlafsTer15
NM_000238.4:c.544_556del MANE Select	NP_000229.1:p.Ser182AlafsTer15