Canonical Allele Identifier: CA2685602183

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947923-A-AGAGGAGGGGGCGAGGGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947933_150947950dup , CM000669.2:g.150947933_150947950dup	GRCh38
NC_000007.13:g.150645021_150645038dup , CM000669.1:g.150645021_150645038dup	GRCh37
NC_000007.12:g.150275954_150275971dup	NCBI36
NG_008916.1:g.34986_35003dup , LRG_288:g.34986_35003dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3526-63_3526-46dup
ENST00000262186.10:c.2693-63_2693-46dup MANE Select	ENSP00000262186.5:n.2693-63_2693-46dup
ENST00000330883.9:c.1673-63_1673-46dup	ENSP00000328531.4:n.1673-63_1673-46dup
ENST00000262186.9:c.2693-63_2693-46dup	ENSP00000262186.5:n.2693-63_2693-46dup
ENST00000330883.8:c.1673-63_1673-46dup	ENSP00000328531.4:n.1673-63_1673-46dup
NM_000238.3:c.2693-63_2693-46dup , LRG_288t1:c.2693-63_2693-46dup	NP_000229.1:n.2693-63_2693-46dup
NM_172057.2:c.1673-63_1673-46dup , LRG_288t3:c.1673-63_1673-46dup	NP_742054.1:n.1673-63_1673-46dup
XM_011516185.1:c.2393-63_2393-46dup	XP_011514487.1:n.2393-63_2393-46dup
XM_011516186.1:c.2693-250_2693-233dup	XP_011514488.1:n.2693-250_2693-233dup
XM_011516185.2:c.2393-63_2393-46dup	XP_011514487.1:n.2393-63_2393-46dup
XM_011516186.3:c.2693-250_2693-233dup	XP_011514488.1:n.2693-250_2693-233dup
XM_017012195.1:c.2543-63_2543-46dup	XP_016867684.1:n.2543-63_2543-46dup
XM_017012196.1:c.2516-63_2516-46dup	XP_016867685.1:n.2516-63_2516-46dup
NM_000238.4:c.2693-63_2693-46dup MANE Select	NP_000229.1:n.2693-63_2693-46dup
NM_172057.3:c.1673-63_1673-46dup	NP_742054.1:n.1673-63_1673-46dup