Canonical Allele Identifier: CA2685608028

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958263-CGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958265_150958266del , CM000669.2:g.150958265_150958266del	GRCh38
NC_000007.13:g.150655353_150655354del , CM000669.1:g.150655353_150655354del	GRCh37
NC_000007.12:g.150286286_150286287del	NCBI36
NG_008916.1:g.24662_24663del , LRG_288:g.24662_24663del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1543_1544del
ENST00000262186.10:c.710_711del MANE Select	ENSP00000262186.5:p.Pro237ArgfsTer?
ENST00000262186.9:c.710_711del	ENSP00000262186.5:p.Pro237ArgfsTer?
ENST00000430723.4:c.362_363del	ENSP00000387657.4:p.Pro121ArgfsTer?
ENST00000532957.5:n.933_934del
NM_000238.3:c.710_711del , LRG_288t1:c.710_711del	NP_000229.1:p.Pro237ArgfsTer?
NM_172056.2:c.710_711del , LRG_288t2:c.710_711del	NP_742053.1:p.Pro237ArgfsTer?
XM_011516185.1:c.410_411del	XP_011514487.1:p.Pro137ArgfsTer?
XM_011516186.1:c.710_711del	XP_011514488.1:p.Pro237ArgfsTer?
XM_011516185.2:c.410_411del	XP_011514487.1:p.Pro137ArgfsTer?
XM_011516186.3:c.710_711del	XP_011514488.1:p.Pro237ArgfsTer?
XM_017012195.1:c.560_561del	XP_016867684.1:p.Pro187ArgfsTer?
XM_017012196.1:c.533_534del	XP_016867685.1:p.Pro178ArgfsTer?
NM_000238.4:c.710_711del MANE Select	NP_000229.1:p.Pro237ArgfsTer?