Canonical Allele Identifier: CA2685602119

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947624-TGTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947626_150947628del , CM000669.2:g.150947626_150947628del	GRCh38
NC_000007.13:g.150644714_150644716del , CM000669.1:g.150644714_150644716del	GRCh37
NC_000007.12:g.150275647_150275649del	NCBI36
NG_008916.1:g.35300_35302del , LRG_288:g.35300_35302del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3777_3779del
ENST00000262186.10:c.2944_2946del MANE Select	ENSP00000262186.5:p.Asp982del
ENST00000330883.9:c.1924_1926del	ENSP00000328531.4:p.Asp642del
ENST00000262186.9:c.2944_2946del	ENSP00000262186.5:p.Asp982del
ENST00000330883.8:c.1924_1926del	ENSP00000328531.4:p.Asp642del
NM_000238.3:c.2944_2946del , LRG_288t1:c.2944_2946del	NP_000229.1:p.Asp982del
NM_172057.2:c.1924_1926del , LRG_288t3:c.1924_1926del	NP_742054.1:p.Asp642del
XM_011516185.1:c.2644_2646del	XP_011514487.1:p.Asp882del
XM_011516186.1:c.*24_*26del	XP_011514488.1:n.*24_*26del
XM_011516185.2:c.2644_2646del	XP_011514487.1:p.Asp882del
XM_011516186.3:c.*24_*26del	XP_011514488.1:n.*24_*26del
XM_017012195.1:c.2794_2796del	XP_016867684.1:p.Asp932del
XM_017012196.1:c.2767_2769del	XP_016867685.1:p.Asp923del
NM_000238.4:c.2944_2946del MANE Select	NP_000229.1:p.Asp982del
NM_172057.3:c.1924_1926del	NP_742054.1:p.Asp642del