Canonical Allele Identifier: CA2685600458

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948453-TGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948456_150948457del , CM000669.2:g.150948456_150948457del	GRCh38
NC_000007.13:g.150645544_150645545del , CM000669.1:g.150645544_150645545del	GRCh37
NC_000007.12:g.150276477_150276478del	NCBI36
NG_008916.1:g.34472_34473del , LRG_288:g.34472_34473del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3514_3515del
ENST00000262186.10:c.2681_2682del MANE Select	ENSP00000262186.5:p.Arg894HisfsTer25
ENST00000330883.9:c.1661_1662del	ENSP00000328531.4:p.Arg554HisfsTer25
ENST00000262186.9:c.2681_2682del	ENSP00000262186.5:p.Arg894HisfsTer25
ENST00000330883.8:c.1661_1662del	ENSP00000328531.4:p.Arg554HisfsTer25
NM_000238.3:c.2681_2682del , LRG_288t1:c.2681_2682del	NP_000229.1:p.Arg894HisfsTer25
NM_172057.2:c.1661_1662del , LRG_288t3:c.1661_1662del	NP_742054.1:p.Arg554HisfsTer25
XM_011516185.1:c.2381_2382del	XP_011514487.1:p.Arg794HisfsTer25
XM_011516186.1:c.2681_2682del	XP_011514488.1:p.Arg894HisfsTer?
XM_011516185.2:c.2381_2382del	XP_011514487.1:p.Arg794HisfsTer25
XM_011516186.3:c.2681_2682del	XP_011514488.1:p.Arg894HisfsTer?
XM_017012195.1:c.2531_2532del	XP_016867684.1:p.Arg844HisfsTer25
XM_017012196.1:c.2504_2505del	XP_016867685.1:p.Arg835HisfsTer25
NM_000238.4:c.2681_2682del MANE Select	NP_000229.1:p.Arg894HisfsTer25
NM_172057.3:c.1661_1662del	NP_742054.1:p.Arg554HisfsTer25