Canonical Allele Identifier: CA658761324

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948488_150948498del , CM000669.2:g.150948488_150948498del	GRCh38
NC_000007.13:g.150645576_150645586del , CM000669.1:g.150645576_150645586del	GRCh37
NC_000007.12:g.150276509_150276519del	NCBI36
NG_008916.1:g.34430_34440del , LRG_288:g.34430_34440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3472_3482del
ENST00000262186.10:c.2639_2649del MANE Select	ENSP00000262186.5:p.Gly880AlafsTer?
ENST00000330883.9:c.1619_1629del	ENSP00000328531.4:p.Gly540AlafsTer?
ENST00000262186.9:c.2639_2649del	ENSP00000262186.5:p.Gly880AlafsTer?
ENST00000330883.8:c.1619_1629del	ENSP00000328531.4:p.Gly540AlafsTer?
NM_000238.3:c.2639_2649del , LRG_288t1:c.2639_2649del	NP_000229.1:p.Gly880AlafsTer?
NM_172057.2:c.1619_1629del , LRG_288t3:c.1619_1629del	NP_742054.1:p.Gly540AlafsTer?
XM_011516185.1:c.2339_2349del	XP_011514487.1:p.Gly780AlafsTer?
XM_011516186.1:c.2639_2649del	XP_011514488.1:p.Gly880AlafsTer?
XM_011516185.2:c.2339_2349del	XP_011514487.1:p.Gly780AlafsTer?
XM_011516186.3:c.2639_2649del	XP_011514488.1:p.Gly880AlafsTer?
XM_017012195.1:c.2489_2499del	XP_016867684.1:p.Gly830AlafsTer?
XM_017012196.1:c.2462_2472del	XP_016867685.1:p.Gly821AlafsTer?
NM_000238.4:c.2639_2649del MANE Select	NP_000229.1:p.Gly880AlafsTer?
NM_172057.3:c.1619_1629del	NP_742054.1:p.Gly540AlafsTer?