Canonical Allele Identifier: CA2695208659

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959596_150959597dup , CM000669.2:g.150959596_150959597dup	GRCh38
NC_000007.13:g.150656684_150656685dup , CM000669.1:g.150656684_150656685dup	GRCh37
NC_000007.12:g.150287617_150287618dup	NCBI36
NG_008916.1:g.23335_23336dup , LRG_288:g.23335_23336dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1285_1286dup
ENST00000262186.10:c.452_453dup MANE Select	ENSP00000262186.5:p.Thr152ProfsTer15
ENST00000262186.9:c.452_453dup	ENSP00000262186.5:p.Thr152ProfsTer15
ENST00000430723.4:c.234+41_234+42dup	ENSP00000387657.4:n.234+41_234+42dup
ENST00000532957.5:n.675_676dup
NM_000238.3:c.452_453dup , LRG_288t1:c.452_453dup	NP_000229.1:p.Thr152ProfsTer15
NM_172056.2:c.452_453dup , LRG_288t2:c.452_453dup	NP_742053.1:p.Thr152ProfsTer15
XM_011516185.1:c.152_153dup	XP_011514487.1:p.Thr52ProfsTer15
XM_011516186.1:c.452_453dup	XP_011514488.1:p.Thr152ProfsTer15
XM_011516185.2:c.152_153dup	XP_011514487.1:p.Thr52ProfsTer15
XM_011516186.3:c.452_453dup	XP_011514488.1:p.Thr152ProfsTer15
XM_017012195.1:c.302_303dup	XP_016867684.1:p.Thr102ProfsTer15
XM_017012196.1:c.275_276dup	XP_016867685.1:p.Thr93ProfsTer15
NM_000238.4:c.452_453dup MANE Select	NP_000229.1:p.Thr152ProfsTer15