Canonical Allele Identifier: CA2579062482

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947868del , CM000669.2:g.150947868del	GRCh38
NC_000007.13:g.150644956del , CM000669.1:g.150644956del	GRCh37
NC_000007.12:g.150275889del	NCBI36
NG_008916.1:g.35059del , LRG_288:g.35059del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3536del
ENST00000262186.10:c.2703del MANE Select	ENSP00000262186.5:p.Gln901HisfsTer?
ENST00000330883.9:c.1683del	ENSP00000328531.4:p.Gln561HisfsTer?
ENST00000262186.9:c.2703del	ENSP00000262186.5:p.Gln901HisfsTer?
ENST00000330883.8:c.1683del	ENSP00000328531.4:p.Gln561HisfsTer?
NM_000238.3:c.2703del , LRG_288t1:c.2703del	NP_000229.1:p.Gln901HisfsTer?
NM_172057.2:c.1683del , LRG_288t3:c.1683del	NP_742054.1:p.Gln561HisfsTer?
XM_011516185.1:c.2403del	XP_011514487.1:p.Gln801HisfsTer?
XM_011516186.1:c.2693-177del	XP_011514488.1:n.2693-177del
XM_011516185.2:c.2403del	XP_011514487.1:p.Gln801HisfsTer?
XM_011516186.3:c.2693-177del	XP_011514488.1:n.2693-177del
XM_017012195.1:c.2553del	XP_016867684.1:p.Gln851HisfsTer?
XM_017012196.1:c.2526del	XP_016867685.1:p.Gln842HisfsTer?
NM_000238.4:c.2703del MANE Select	NP_000229.1:p.Gln901HisfsTer?
NM_172057.3:c.1683del	NP_742054.1:p.Gln561HisfsTer?