Canonical Allele Identifier: CA2550808594

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947430dup , CM000669.2:g.150947430dup	GRCh38
NC_000007.13:g.150644518dup , CM000669.1:g.150644518dup	GRCh37
NC_000007.12:g.150275451dup	NCBI36
NG_008916.1:g.35501dup , LRG_288:g.35501dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3887dup
ENST00000262186.10:c.3054dup MANE Select	ENSP00000262186.5:p.Thr1019HisfsTer?
ENST00000330883.9:c.2034dup	ENSP00000328531.4:p.Thr679HisfsTer?
ENST00000262186.9:c.3054dup	ENSP00000262186.5:p.Thr1019HisfsTer?
ENST00000330883.8:c.2034dup	ENSP00000328531.4:p.Thr679HisfsTer?
NM_000238.3:c.3054dup , LRG_288t1:c.3054dup	NP_000229.1:p.Thr1019HisfsTer?
NM_172057.2:c.2034dup , LRG_288t3:c.2034dup	NP_742054.1:p.Thr679HisfsTer?
XM_011516185.1:c.2754dup	XP_011514487.1:p.Thr919HisfsTer?
XM_011516186.1:c.*134dup	XP_011514488.1:n.*134dup
XM_011516185.2:c.2754dup	XP_011514487.1:p.Thr919HisfsTer?
XM_011516186.3:c.*134dup	XP_011514488.1:n.*134dup
XM_017012195.1:c.2904dup	XP_016867684.1:p.Thr969HisfsTer?
XM_017012196.1:c.2877dup	XP_016867685.1:p.Thr960HisfsTer?
NM_000238.4:c.3054dup MANE Select	NP_000229.1:p.Thr1019HisfsTer?
NM_172057.3:c.2034dup	NP_742054.1:p.Thr679HisfsTer?