Canonical Allele Identifier: CA2685602125

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947711-GGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947713_150947714del , CM000669.2:g.150947713_150947714del	GRCh38
NC_000007.13:g.150644801_150644802del , CM000669.1:g.150644801_150644802del	GRCh37
NC_000007.12:g.150275734_150275735del	NCBI36
NG_008916.1:g.35214_35215del , LRG_288:g.35214_35215del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3691_3692del
ENST00000262186.10:c.2858_2859del MANE Select	ENSP00000262186.5:p.Leu953ProfsTer?
ENST00000330883.9:c.1838_1839del	ENSP00000328531.4:p.Leu613ProfsTer?
ENST00000262186.9:c.2858_2859del	ENSP00000262186.5:p.Leu953ProfsTer?
ENST00000330883.8:c.1838_1839del	ENSP00000328531.4:p.Leu613ProfsTer?
NM_000238.3:c.2858_2859del , LRG_288t1:c.2858_2859del	NP_000229.1:p.Leu953ProfsTer?
NM_172057.2:c.1838_1839del , LRG_288t3:c.1838_1839del	NP_742054.1:p.Leu613ProfsTer?
XM_011516185.1:c.2558_2559del	XP_011514487.1:p.Leu853ProfsTer?
XM_011516186.1:c.2693-22_2693-21del	XP_011514488.1:n.2693-22_2693-21del
XM_011516185.2:c.2558_2559del	XP_011514487.1:p.Leu853ProfsTer?
XM_011516186.3:c.2693-22_2693-21del	XP_011514488.1:n.2693-22_2693-21del
XM_017012195.1:c.2708_2709del	XP_016867684.1:p.Leu903ProfsTer?
XM_017012196.1:c.2681_2682del	XP_016867685.1:p.Leu894ProfsTer?
NM_000238.4:c.2858_2859del MANE Select	NP_000229.1:p.Leu953ProfsTer?
NM_172057.3:c.1838_1839del	NP_742054.1:p.Leu613ProfsTer?