Canonical Allele Identifier: CA2580077675

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2102996
• ClinVar RCV Id: RCV003037832

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945428del , CM000669.2:g.150945428del	GRCh38
NC_000007.13:g.150642516del , CM000669.1:g.150642516del	GRCh37
NC_000007.12:g.150273449del	NCBI36
NG_008916.1:g.37501del , LRG_288:g.37501del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4252del
ENST00000262186.10:c.3419del MANE Select	ENSP00000262186.5:p.Gly1140AlafsTer?
ENST00000330883.9:c.2399del	ENSP00000328531.4:p.Gly800AlafsTer?
ENST00000262186.9:c.3419del	ENSP00000262186.5:p.Gly1140AlafsTer?
ENST00000330883.8:c.2399del	ENSP00000328531.4:p.Gly800AlafsTer?
NM_000238.3:c.3419del , LRG_288t1:c.3419del	NP_000229.1:p.Gly1140AlafsTer?
NM_172057.2:c.2399del , LRG_288t3:c.2399del	NP_742054.1:p.Gly800AlafsTer?
XM_011516185.1:c.3119del	XP_011514487.1:p.Gly1040AlafsTer?
XM_011516185.2:c.3119del	XP_011514487.1:p.Gly1040AlafsTer?
XM_017012195.1:c.3269del	XP_016867684.1:p.Gly1090AlafsTer?
XM_017012196.1:c.3242del	XP_016867685.1:p.Gly1081AlafsTer?
NM_000238.4:c.3419del MANE Select	NP_000229.1:p.Gly1140AlafsTer?
NM_172057.3:c.2399del	NP_742054.1:p.Gly800AlafsTer?