Canonical Allele Identifier: CA2697549692

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2727880
• ClinVar RCV Id: RCV003531441

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958121_150958206delinsACGCCTCGGGCTC , CM000669.2:g.150958121_150958206delinsACGCCTCGGGCTC	GRCh38
NC_000007.13:g.150655209_150655294delinsACGCCTCGGGCTC , CM000669.1:g.150655209_150655294delinsACGCCTCGGGCTC	GRCh37
NC_000007.12:g.150286142_150286227delinsACGCCTCGGGCTC	NCBI36
NG_008916.1:g.24721_24806delinsGAGCCCGAGGCGT , LRG_288:g.24721_24806delinsGAGCCCGAGGCGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1602_1687delinsGAGCCCGAGGCGT
ENST00000262186.10:c.769_854delinsGAGCCCGAGGCGT MANE Select	ENSP00000262186.5:p.Asn257GlufsTer?
ENST00000262186.9:c.769_854delinsGAGCCCGAGGCGT	ENSP00000262186.5:p.Asn257GlufsTer?
ENST00000430723.4:c.421_506delinsGAGCCCGAGGCGT	ENSP00000387657.4:p.Asn141GlufsTer?
ENST00000532957.5:n.992_1077delinsGAGCCCGAGGCGT
NM_000238.3:c.769_854delinsGAGCCCGAGGCGT , LRG_288t1:c.769_854delinsGAGCCCGAGGCGT	NP_000229.1:p.Asn257GlufsTer?
NM_172056.2:c.769_854delinsGAGCCCGAGGCGT , LRG_288t2:c.769_854delinsGAGCCCGAGGCGT	NP_742053.1:p.Asn257GlufsTer?
XM_011516185.1:c.469_554delinsGAGCCCGAGGCGT	XP_011514487.1:p.Asn157GlufsTer?
XM_011516186.1:c.769_854delinsGAGCCCGAGGCGT	XP_011514488.1:p.Asn257GlufsTer?
XM_011516185.2:c.469_554delinsGAGCCCGAGGCGT	XP_011514487.1:p.Asn157GlufsTer?
XM_011516186.3:c.769_854delinsGAGCCCGAGGCGT	XP_011514488.1:p.Asn257GlufsTer?
XM_017012195.1:c.619_704delinsGAGCCCGAGGCGT	XP_016867684.1:p.Asn207GlufsTer?
XM_017012196.1:c.592_677delinsGAGCCCGAGGCGT	XP_016867685.1:p.Asn198GlufsTer?
NM_000238.4:c.769_854delinsGAGCCCGAGGCGT MANE Select	NP_000229.1:p.Asn257GlufsTer?