Canonical Allele Identifier: CA2695208801

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947618dup , CM000669.2:g.150947618dup	GRCh38
NC_000007.13:g.150644706dup , CM000669.1:g.150644706dup	GRCh37
NC_000007.12:g.150275639dup	NCBI36
NG_008916.1:g.35310dup , LRG_288:g.35310dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3787dup
ENST00000262186.10:c.2954dup MANE Select	ENSP00000262186.5:p.Asn985LysfsTer?
ENST00000330883.9:c.1934dup	ENSP00000328531.4:p.Asn645LysfsTer?
ENST00000262186.9:c.2954dup	ENSP00000262186.5:p.Asn985LysfsTer?
ENST00000330883.8:c.1934dup	ENSP00000328531.4:p.Asn645LysfsTer?
NM_000238.3:c.2954dup , LRG_288t1:c.2954dup	NP_000229.1:p.Asn985LysfsTer?
NM_172057.2:c.1934dup , LRG_288t3:c.1934dup	NP_742054.1:p.Asn645LysfsTer?
XM_011516185.1:c.2654dup	XP_011514487.1:p.Asn885LysfsTer?
XM_011516186.1:c.*34dup	XP_011514488.1:n.*34dup
XM_011516185.2:c.2654dup	XP_011514487.1:p.Asn885LysfsTer?
XM_011516186.3:c.*34dup	XP_011514488.1:n.*34dup
XM_017012195.1:c.2804dup	XP_016867684.1:p.Asn935LysfsTer?
XM_017012196.1:c.2777dup	XP_016867685.1:p.Asn926LysfsTer?
NM_000238.4:c.2954dup MANE Select	NP_000229.1:p.Asn985LysfsTer?
NM_172057.3:c.1934dup	NP_742054.1:p.Asn645LysfsTer?