Canonical Allele Identifier: CA2579062826

Gene: KCNH2

Linked Data

• dbSNP Id: rs2116931064
• gnomAD v4: 7-150947571-C-CCGGTCCTCCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947574_150947584dup , CM000669.2:g.150947574_150947584dup	GRCh38
NC_000007.13:g.150644662_150644672dup , CM000669.1:g.150644662_150644672dup	GRCh37
NC_000007.12:g.150275595_150275605dup	NCBI36
NG_008916.1:g.35345_35355dup , LRG_288:g.35345_35355dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3798+24_3798+34dup
ENST00000262186.10:c.2965+24_2965+34dup MANE Select	ENSP00000262186.5:n.2965+24_2965+34dup
ENST00000330883.9:c.1945+24_1945+34dup	ENSP00000328531.4:n.1945+24_1945+34dup
ENST00000262186.9:c.2965+24_2965+34dup	ENSP00000262186.5:n.2965+24_2965+34dup
ENST00000330883.8:c.1945+24_1945+34dup	ENSP00000328531.4:n.1945+24_1945+34dup
NM_000238.3:c.2965+24_2965+34dup , LRG_288t1:c.2965+24_2965+34dup	NP_000229.1:n.2965+24_2965+34dup
NM_172057.2:c.1945+24_1945+34dup , LRG_288t3:c.1945+24_1945+34dup	NP_742054.1:n.1945+24_1945+34dup
XM_011516185.1:c.2665+24_2665+34dup	XP_011514487.1:n.2665+24_2665+34dup
XM_011516186.1:c.*45+24_*45+34dup	XP_011514488.1:n.*45+24_*45+34dup
XM_011516185.2:c.2665+24_2665+34dup	XP_011514487.1:n.2665+24_2665+34dup
XM_011516186.3:c.*45+24_*45+34dup	XP_011514488.1:n.*45+24_*45+34dup
XM_017012195.1:c.2815+24_2815+34dup	XP_016867684.1:n.2815+24_2815+34dup
XM_017012196.1:c.2788+24_2788+34dup	XP_016867685.1:n.2788+24_2788+34dup
NM_000238.4:c.2965+24_2965+34dup MANE Select	NP_000229.1:n.2965+24_2965+34dup
NM_172057.3:c.1945+24_1945+34dup	NP_742054.1:n.1945+24_1945+34dup