Canonical Allele Identifier: CA2573050709

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951578_150951586del , CM000669.2:g.150951578_150951586del	GRCh38
NC_000007.13:g.150648666_150648674del , CM000669.1:g.150648666_150648674del	GRCh37
NC_000007.12:g.150279599_150279607del	NCBI36
NG_008916.1:g.31341_31349del , LRG_288:g.31341_31349del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1105_1113del
ENST00000684241.1:n.2640_2648del
ENST00000262186.10:c.1807_1815del MANE Select	ENSP00000262186.5:p.Gly603_Pro605del
ENST00000330883.9:c.787_795del	ENSP00000328531.4:p.Gly263_Pro265del
ENST00000262186.9:c.1807_1815del	ENSP00000262186.5:p.Gly603_Pro605del
ENST00000330883.8:c.787_795del	ENSP00000328531.4:p.Gly263_Pro265del
ENST00000430723.4:c.1459_1467del	ENSP00000387657.4:p.Gly487_Pro489del
ENST00000461280.1:n.1094_1102del
ENST00000473610.5:n.1112_1120del
ENST00000532957.5:n.2030_2038del
NM_000238.3:c.1807_1815del , LRG_288t1:c.1807_1815del	NP_000229.1:p.Gly603_Pro605del
NM_001204798.1:c.787_795del	NP_001191727.1:p.Gly263_Pro265del
NM_172056.2:c.1807_1815del , LRG_288t2:c.1807_1815del	NP_742053.1:p.Gly603_Pro605del
NM_172057.2:c.787_795del , LRG_288t3:c.787_795del	NP_742054.1:p.Gly263_Pro265del
XM_011516185.1:c.1507_1515del	XP_011514487.1:p.Gly503_Pro505del
XM_011516186.1:c.1807_1815del	XP_011514488.1:p.Gly603_Pro605del
XM_011516185.2:c.1507_1515del	XP_011514487.1:p.Gly503_Pro505del
XM_011516186.3:c.1807_1815del	XP_011514488.1:p.Gly603_Pro605del
XM_017012195.1:c.1657_1665del	XP_016867684.1:p.Gly553_Pro555del
XM_017012196.1:c.1630_1638del	XP_016867685.1:p.Gly544_Pro546del
NM_000238.4:c.1807_1815del MANE Select	NP_000229.1:p.Gly603_Pro605del
NM_001204798.2:c.787_795del	NP_001191727.1:p.Gly263_Pro265del
NM_172057.3:c.787_795del	NP_742054.1:p.Gly263_Pro265del