Canonical Allele Identifier: CA2695208824

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948890del , CM000669.2:g.150948890del	GRCh38
NC_000007.13:g.150645978del , CM000669.1:g.150645978del	GRCh37
NC_000007.12:g.150276911del	NCBI36
NG_008916.1:g.34038del , LRG_288:g.34038del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3392del
ENST00000262186.10:c.2559del MANE Select	ENSP00000262186.5:p.Trp853CysfsTer15
ENST00000330883.9:c.1539del	ENSP00000328531.4:p.Trp513CysfsTer15
ENST00000262186.9:c.2559del	ENSP00000262186.5:p.Trp853CysfsTer15
ENST00000330883.8:c.1539del	ENSP00000328531.4:p.Trp513CysfsTer15
NM_000238.3:c.2559del , LRG_288t1:c.2559del	NP_000229.1:p.Trp853CysfsTer15
NM_172057.2:c.1539del , LRG_288t3:c.1539del	NP_742054.1:p.Trp513CysfsTer15
XM_011516185.1:c.2259del	XP_011514487.1:p.Trp753CysfsTer15
XM_011516186.1:c.2559del	XP_011514488.1:p.Trp853CysfsTer15
XM_011516185.2:c.2259del	XP_011514487.1:p.Trp753CysfsTer15
XM_011516186.3:c.2559del	XP_011514488.1:p.Trp853CysfsTer15
XM_017012195.1:c.2409del	XP_016867684.1:p.Trp803CysfsTer15
XM_017012196.1:c.2382del	XP_016867685.1:p.Trp794CysfsTer15
NM_000238.4:c.2559del MANE Select	NP_000229.1:p.Trp853CysfsTer15
NM_172057.3:c.1539del	NP_742054.1:p.Trp513CysfsTer15