Canonical Allele Identifier: CA1752417828

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958106_150958125delinsGCCTCGATGTCGTCGGCCGA , CM000669.2:g.150958106_150958125delinsGCCTCGATGTCGTCGGCCGA	GRCh38
NC_000007.13:g.150655194_150655213delinsGCCTCGATGTCGTCGGCCGA , CM000669.1:g.150655194_150655213delinsGCCTCGATGTCGTCGGCCGA	GRCh37
NC_000007.12:g.150286127_150286146delinsGCCTCGATGTCGTCGGCCGA	NCBI36
NG_008916.1:g.24802_24821delinsTCGGCCGACGACATCGAGGC , LRG_288:g.24802_24821delinsTCGGCCGACGACATCGAGGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1683_1702delinsTCGGCCGACGACATCGAGGC
ENST00000262186.10:c.850_869delinsTCGGCCGACGACATCGAGGC MANE Select	ENSP00000262186.5:p.Ser284=
ENST00000262186.9:c.850_869delinsTCGGCCGACGACATCGAGGC	ENSP00000262186.5:p.Ser284=
ENST00000430723.4:c.502_521delinsTCGGCCGACGACATCGAGGC	ENSP00000387657.4:p.Ser168=
ENST00000532957.5:n.1073_1092delinsTCGGCCGACGACATCGAGGC
NM_000238.3:c.850_869delinsTCGGCCGACGACATCGAGGC , LRG_288t1:c.850_869delinsTCGGCCGACGACATCGAGGC	NP_000229.1:p.Ser284=
NM_172056.2:c.850_869delinsTCGGCCGACGACATCGAGGC , LRG_288t2:c.850_869delinsTCGGCCGACGACATCGAGGC	NP_742053.1:p.Ser284=
XM_011516185.1:c.550_569delinsTCGGCCGACGACATCGAGGC	XP_011514487.1:p.Ser184=
XM_011516186.1:c.850_869delinsTCGGCCGACGACATCGAGGC	XP_011514488.1:p.Ser284=
XM_011516185.2:c.550_569delinsTCGGCCGACGACATCGAGGC	XP_011514487.1:p.Ser184=
XM_011516186.3:c.850_869delinsTCGGCCGACGACATCGAGGC	XP_011514488.1:p.Ser284=
XM_017012195.1:c.700_719delinsTCGGCCGACGACATCGAGGC	XP_016867684.1:p.Ser234=
XM_017012196.1:c.673_692delinsTCGGCCGACGACATCGAGGC	XP_016867685.1:p.Ser225=
NM_000238.4:c.850_869delinsTCGGCCGACGACATCGAGGC MANE Select	NP_000229.1:p.Ser284=