Canonical Allele Identifier: CA1752461251

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801921836

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974553_150974554insT , CM000669.2:g.150974553_150974554insT	GRCh38
NC_000007.13:g.150671641_150671642insT , CM000669.1:g.150671641_150671642insT	GRCh37
NC_000007.12:g.150302574_150302575insT	NCBI36
NG_008916.1:g.8373_8374insA , LRG_288:g.8373_8374insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.307+157_307+158insA MANE Select	ENSP00000262186.5:n.307+157_307+158insA
ENST00000262186.9:c.307+157_307+158insA	ENSP00000262186.5:n.307+157_307+158insA
ENST00000430723.4:c.130+157_130+158insA	ENSP00000387657.4:n.130+157_130+158insA
ENST00000532957.5:n.530+157_530+158insA
NM_000238.3:c.307+157_307+158insA , LRG_288t1:c.307+157_307+158insA	NP_000229.1:n.307+157_307+158insA
NM_172056.2:c.307+157_307+158insA , LRG_288t2:c.307+157_307+158insA	NP_742053.1:n.307+157_307+158insA
XM_011516186.1:c.307+157_307+158insA	XP_011514488.1:n.307+157_307+158insA
XM_011516186.3:c.307+157_307+158insA	XP_011514488.1:n.307+157_307+158insA
XM_017012196.1:c.130+157_130+158insA	XP_016867685.1:n.130+157_130+158insA
NM_000238.4:c.307+157_307+158insA MANE Select	NP_000229.1:n.307+157_307+158insA