Canonical Allele Identifier: CA2579062904

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2773422
• ClinVar RCV Id: RCV003592249
• gnomAD v4: 7-150947724-GCTGCGGCCTGGGCCCTCATCCTCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947729_150947752del , CM000669.2:g.150947729_150947752del	GRCh38
NC_000007.13:g.150644817_150644840del , CM000669.1:g.150644817_150644840del	GRCh37
NC_000007.12:g.150275750_150275773del	NCBI36
NG_008916.1:g.35179_35202del , LRG_288:g.35179_35202del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3656_3679del
ENST00000262186.10:c.2823_2846del MANE Select	ENSP00000262186.5:p.Glu942_Ser949del
ENST00000330883.9:c.1803_1826del	ENSP00000328531.4:p.Glu602_Ser609del
ENST00000262186.9:c.2823_2846del	ENSP00000262186.5:p.Glu942_Ser949del
ENST00000330883.8:c.1803_1826del	ENSP00000328531.4:p.Glu602_Ser609del
NM_000238.3:c.2823_2846del , LRG_288t1:c.2823_2846del	NP_000229.1:p.Glu942_Ser949del
NM_172057.2:c.1803_1826del , LRG_288t3:c.1803_1826del	NP_742054.1:p.Glu602_Ser609del
XM_011516185.1:c.2523_2546del	XP_011514487.1:p.Glu842_Ser849del
XM_011516186.1:c.2693-57_2693-34del	XP_011514488.1:n.2693-57_2693-34del
XM_011516185.2:c.2523_2546del	XP_011514487.1:p.Glu842_Ser849del
XM_011516186.3:c.2693-57_2693-34del	XP_011514488.1:n.2693-57_2693-34del
XM_017012195.1:c.2673_2696del	XP_016867684.1:p.Glu892_Ser899del
XM_017012196.1:c.2646_2669del	XP_016867685.1:p.Glu883_Ser890del
NM_000238.4:c.2823_2846del MANE Select	NP_000229.1:p.Glu942_Ser949del
NM_172057.3:c.1803_1826del	NP_742054.1:p.Glu602_Ser609del