Canonical Allele Identifier: CA2685609218

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958507-G-GGGAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958515_150958519dup , CM000669.2:g.150958515_150958519dup	GRCh38
NC_000007.13:g.150655603_150655607dup , CM000669.1:g.150655603_150655607dup	GRCh37
NC_000007.12:g.150286536_150286540dup	NCBI36
NG_008916.1:g.24415_24419dup , LRG_288:g.24415_24419dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1306-10_1306-6dup
ENST00000262186.10:c.473-10_473-6dup MANE Select	ENSP00000262186.5:n.473-10_473-6dup
ENST00000262186.9:c.473-10_473-6dup	ENSP00000262186.5:n.473-10_473-6dup
ENST00000430723.4:c.235-120_235-116dup	ENSP00000387657.4:n.235-120_235-116dup
ENST00000532957.5:n.696-10_696-6dup
NM_000238.3:c.473-10_473-6dup , LRG_288t1:c.473-10_473-6dup	NP_000229.1:n.473-10_473-6dup
NM_172056.2:c.473-10_473-6dup , LRG_288t2:c.473-10_473-6dup	NP_742053.1:n.473-10_473-6dup
XM_011516185.1:c.173-10_173-6dup	XP_011514487.1:n.173-10_173-6dup
XM_011516186.1:c.473-10_473-6dup	XP_011514488.1:n.473-10_473-6dup
XM_011516185.2:c.173-10_173-6dup	XP_011514487.1:n.173-10_173-6dup
XM_011516186.3:c.473-10_473-6dup	XP_011514488.1:n.473-10_473-6dup
XM_017012195.1:c.323-10_323-6dup	XP_016867684.1:n.323-10_323-6dup
XM_017012196.1:c.296-10_296-6dup	XP_016867685.1:n.296-10_296-6dup
NM_000238.4:c.473-10_473-6dup MANE Select	NP_000229.1:n.473-10_473-6dup