Canonical Allele Identifier: CA2500743728

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948466-GGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948467_150948468del , CM000669.2:g.150948467_150948468del	GRCh38
NC_000007.13:g.150645555_150645556del , CM000669.1:g.150645555_150645556del	GRCh37
NC_000007.12:g.150276488_150276489del	NCBI36
NG_008916.1:g.34459_34460del , LRG_288:g.34459_34460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3501_3502del
ENST00000262186.10:c.2668_2669del MANE Select	ENSP00000262186.5:p.Ser890LeufsTer29
ENST00000330883.9:c.1648_1649del	ENSP00000328531.4:p.Ser550LeufsTer29
ENST00000262186.9:c.2668_2669del	ENSP00000262186.5:p.Ser890LeufsTer29
ENST00000330883.8:c.1648_1649del	ENSP00000328531.4:p.Ser550LeufsTer29
NM_000238.3:c.2668_2669del , LRG_288t1:c.2668_2669del	NP_000229.1:p.Ser890LeufsTer29
NM_172057.2:c.1648_1649del , LRG_288t3:c.1648_1649del	NP_742054.1:p.Ser550LeufsTer29
XM_011516185.1:c.2368_2369del	XP_011514487.1:p.Ser790LeufsTer29
XM_011516186.1:c.2668_2669del	XP_011514488.1:p.Ser890LeufsTer?
XM_011516185.2:c.2368_2369del	XP_011514487.1:p.Ser790LeufsTer29
XM_011516186.3:c.2668_2669del	XP_011514488.1:p.Ser890LeufsTer?
XM_017012195.1:c.2518_2519del	XP_016867684.1:p.Ser840LeufsTer29
XM_017012196.1:c.2491_2492del	XP_016867685.1:p.Ser831LeufsTer29
NM_000238.4:c.2668_2669del MANE Select	NP_000229.1:p.Ser890LeufsTer29
NM_172057.3:c.1648_1649del	NP_742054.1:p.Ser550LeufsTer29