Canonical Allele Identifier: CA2573052837

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1332333
• ClinVar RCV Id: RCV001842202
• dbSNP Id: rs2116928842
• gnomAD v4: 7-150947378-G-GGGCCGCGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947384_150947385insGACGGCCGC , CM000669.2:g.150947384_150947385insGACGGCCGC	GRCh38
NC_000007.13:g.150644472_150644473insGACGGCCGC , CM000669.1:g.150644472_150644473insGACGGCCGC	GRCh37
NC_000007.12:g.150275405_150275406insGACGGCCGC	NCBI36
NG_008916.1:g.35548_35549insGTCGCGGCC , LRG_288:g.35548_35549insGTCGCGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3934_3935insGTCGCGGCC
ENST00000262186.10:c.3101_3102insGTCGCGGCC MANE Select	ENSP00000262186.5:p.Pro1034_Arg1035insSerArgPro
ENST00000330883.9:c.2081_2082insGTCGCGGCC	ENSP00000328531.4:p.Pro694_Arg695insSerArgPro
ENST00000262186.9:c.3101_3102insGTCGCGGCC	ENSP00000262186.5:p.Pro1034_Arg1035insSerArgPro
ENST00000330883.8:c.2081_2082insGTCGCGGCC	ENSP00000328531.4:p.Pro694_Arg695insSerArgPro
NM_000238.3:c.3101_3102insGTCGCGGCC , LRG_288t1:c.3101_3102insGTCGCGGCC	NP_000229.1:p.Pro1034_Arg1035insSerArgPro
NM_172057.2:c.2081_2082insGTCGCGGCC , LRG_288t3:c.2081_2082insGTCGCGGCC	NP_742054.1:p.Pro694_Arg695insSerArgPro
XM_011516185.1:c.2801_2802insGTCGCGGCC	XP_011514487.1:p.Pro934_Arg935insSerArgPro
XM_011516185.2:c.2801_2802insGTCGCGGCC	XP_011514487.1:p.Pro934_Arg935insSerArgPro
XM_017012195.1:c.2951_2952insGTCGCGGCC	XP_016867684.1:p.Pro984_Arg985insSerArgPro
XM_017012196.1:c.2924_2925insGTCGCGGCC	XP_016867685.1:p.Pro975_Arg976insSerArgPro
NM_000238.4:c.3101_3102insGTCGCGGCC MANE Select	NP_000229.1:p.Pro1034_Arg1035insSerArgPro
NM_172057.3:c.2081_2082insGTCGCGGCC	NP_742054.1:p.Pro694_Arg695insSerArgPro