Canonical Allele Identifier: CA2685603211

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150974611-G-GCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974614_150974616dup , CM000669.2:g.150974614_150974616dup	GRCh38
NC_000007.13:g.150671702_150671704dup , CM000669.1:g.150671702_150671704dup	GRCh37
NC_000007.12:g.150302635_150302637dup	NCBI36
NG_008916.1:g.8313_8315dup , LRG_288:g.8313_8315dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.307+97_307+99dup MANE Select	ENSP00000262186.5:n.307+97_307+99dup
ENST00000262186.9:c.307+97_307+99dup	ENSP00000262186.5:n.307+97_307+99dup
ENST00000430723.4:c.130+97_130+99dup	ENSP00000387657.4:n.130+97_130+99dup
ENST00000532957.5:n.530+97_530+99dup
NM_000238.3:c.307+97_307+99dup , LRG_288t1:c.307+97_307+99dup	NP_000229.1:n.307+97_307+99dup
NM_172056.2:c.307+97_307+99dup , LRG_288t2:c.307+97_307+99dup	NP_742053.1:n.307+97_307+99dup
XM_011516186.1:c.307+97_307+99dup	XP_011514488.1:n.307+97_307+99dup
XM_011516186.3:c.307+97_307+99dup	XP_011514488.1:n.307+97_307+99dup
XM_017012196.1:c.130+97_130+99dup	XP_016867685.1:n.130+97_130+99dup
NM_000238.4:c.307+97_307+99dup MANE Select	NP_000229.1:n.307+97_307+99dup