Canonical Allele Identifier: CA2716211278

Gene: KCNH2

Linked Data

• dbSNP Id: rs2116999581

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957535_150957536insGT , CM000669.2:g.150957535_150957536insGT	GRCh38
NC_000007.13:g.150654623_150654624insGT , CM000669.1:g.150654623_150654624insGT	GRCh37
NC_000007.12:g.150285556_150285557insGT	NCBI36
NG_008916.1:g.25391_25392insAC , LRG_288:g.25391_25392insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1750-34_1750-33insAC
ENST00000262186.10:c.917-34_917-33insAC MANE Select	ENSP00000262186.5:n.917-34_917-33insAC
ENST00000262186.9:c.917-34_917-33insAC	ENSP00000262186.5:n.917-34_917-33insAC
ENST00000430723.4:c.569-34_569-33insAC	ENSP00000387657.4:n.569-34_569-33insAC
ENST00000532957.5:n.1140-34_1140-33insAC
NM_000238.3:c.917-34_917-33insAC , LRG_288t1:c.917-34_917-33insAC	NP_000229.1:n.917-34_917-33insAC
NM_172056.2:c.917-34_917-33insAC , LRG_288t2:c.917-34_917-33insAC	NP_742053.1:n.917-34_917-33insAC
XM_011516185.1:c.617-34_617-33insAC	XP_011514487.1:n.617-34_617-33insAC
XM_011516186.1:c.917-34_917-33insAC	XP_011514488.1:n.917-34_917-33insAC
XM_011516185.2:c.617-34_617-33insAC	XP_011514487.1:n.617-34_617-33insAC
XM_011516186.3:c.917-34_917-33insAC	XP_011514488.1:n.917-34_917-33insAC
XM_017012195.1:c.767-34_767-33insAC	XP_016867684.1:n.767-34_767-33insAC
XM_017012196.1:c.740-34_740-33insAC	XP_016867685.1:n.740-34_740-33insAC
NM_000238.4:c.917-34_917-33insAC MANE Select	NP_000229.1:n.917-34_917-33insAC