Canonical Allele Identifier: CA2685607687

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958208-AGGCTGTGCGCCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958211_150958222del , CM000669.2:g.150958211_150958222del	GRCh38
NC_000007.13:g.150655299_150655310del , CM000669.1:g.150655299_150655310del	GRCh37
NC_000007.12:g.150286232_150286243del	NCBI36
NG_008916.1:g.24707_24718del , LRG_288:g.24707_24718del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1588_1599del
ENST00000262186.10:c.755_766del MANE Select	ENSP00000262186.5:p.Arg252_Ser255del
ENST00000262186.9:c.755_766del	ENSP00000262186.5:p.Arg252_Ser255del
ENST00000430723.4:c.407_418del	ENSP00000387657.4:p.Arg136_Ser139del
ENST00000532957.5:n.978_989del
NM_000238.3:c.755_766del , LRG_288t1:c.755_766del	NP_000229.1:p.Arg252_Ser255del
NM_172056.2:c.755_766del , LRG_288t2:c.755_766del	NP_742053.1:p.Arg252_Ser255del
XM_011516185.1:c.455_466del	XP_011514487.1:p.Arg152_Ser155del
XM_011516186.1:c.755_766del	XP_011514488.1:p.Arg252_Ser255del
XM_011516185.2:c.455_466del	XP_011514487.1:p.Arg152_Ser155del
XM_011516186.3:c.755_766del	XP_011514488.1:p.Arg252_Ser255del
XM_017012195.1:c.605_616del	XP_016867684.1:p.Arg202_Ser205del
XM_017012196.1:c.578_589del	XP_016867685.1:p.Arg193_Ser196del
NM_000238.4:c.755_766del MANE Select	NP_000229.1:p.Arg252_Ser255del