Canonical Allele Identifier: CA007951

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947376del , CM000669.2:g.150947376del	GRCh38
NC_000007.13:g.150644464del , CM000669.1:g.150644464del	GRCh37
NC_000007.12:g.150275397del	NCBI36
NG_008916.1:g.35554del , LRG_288:g.35554del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3940del
ENST00000262186.10:c.3107del MANE Select	ENSP00000262186.5:p.Gly1036AlafsTer21
ENST00000330883.9:c.2087del	ENSP00000328531.4:p.Gly696AlafsTer21
ENST00000262186.9:c.3107del	ENSP00000262186.5:p.Gly1036AlafsTer21
ENST00000330883.8:c.2087del	ENSP00000328531.4:p.Gly696AlafsTer21
NM_000238.3:c.3107del , LRG_288t1:c.3107del	NP_000229.1:p.Gly1036AlafsTer21
NM_172057.2:c.2087del , LRG_288t3:c.2087del	NP_742054.1:p.Gly696AlafsTer21
XM_011516185.1:c.2807del	XP_011514487.1:p.Gly936AlafsTer21
XM_011516185.2:c.2807del	XP_011514487.1:p.Gly936AlafsTer21
XM_017012195.1:c.2957del	XP_016867684.1:p.Gly986AlafsTer21
XM_017012196.1:c.2930del	XP_016867685.1:p.Gly977AlafsTer21
NM_000238.4:c.3107del MANE Select	NP_000229.1:p.Gly1036AlafsTer21
NM_172057.3:c.2087del	NP_742054.1:p.Gly696AlafsTer21