Canonical Allele Identifier: CA1752461121

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801919422
• gnomAD v3: 7-150974458-C-CCA
• gnomAD v4: 7-150974458-C-CCA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974461_150974462dup , CM000669.2:g.150974461_150974462dup	GRCh38
NC_000007.13:g.150671549_150671550dup , CM000669.1:g.150671549_150671550dup	GRCh37
NC_000007.12:g.150302482_150302483dup	NCBI36
NG_008916.1:g.8467_8468dup , LRG_288:g.8467_8468dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.307+251_307+252dup MANE Select	ENSP00000262186.5:n.307+251_307+252dup
ENST00000262186.9:c.307+251_307+252dup	ENSP00000262186.5:n.307+251_307+252dup
ENST00000430723.4:c.130+251_130+252dup	ENSP00000387657.4:n.130+251_130+252dup
ENST00000532957.5:n.530+251_530+252dup
NM_000238.3:c.307+251_307+252dup , LRG_288t1:c.307+251_307+252dup	NP_000229.1:n.307+251_307+252dup
NM_172056.2:c.307+251_307+252dup , LRG_288t2:c.307+251_307+252dup	NP_742053.1:n.307+251_307+252dup
XM_011516186.1:c.307+251_307+252dup	XP_011514488.1:n.307+251_307+252dup
XM_011516185.2:c.-84_-83dup	XP_011514487.1:n.-84_-83dup
XM_011516186.3:c.307+251_307+252dup	XP_011514488.1:n.307+251_307+252dup
XM_017012196.1:c.130+251_130+252dup	XP_016867685.1:n.130+251_130+252dup
NM_000238.4:c.307+251_307+252dup MANE Select	NP_000229.1:n.307+251_307+252dup