Canonical Allele Identifier: CA1752452932

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801800253

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150970084dup , CM000669.2:g.150970084dup	GRCh38
NC_000007.13:g.150667172dup , CM000669.1:g.150667172dup	GRCh37
NC_000007.12:g.150298105dup	NCBI36
NG_008916.1:g.12847dup , LRG_288:g.12847dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.307+4631dup MANE Select	ENSP00000262186.5:n.307+4631dup
ENST00000262186.9:c.307+4631dup	ENSP00000262186.5:n.307+4631dup
ENST00000430723.4:c.130+4631dup	ENSP00000387657.4:n.130+4631dup
ENST00000532957.5:n.530+4631dup
NM_000238.3:c.307+4631dup , LRG_288t1:c.307+4631dup	NP_000229.1:n.307+4631dup
NM_172056.2:c.307+4631dup , LRG_288t2:c.307+4631dup	NP_742053.1:n.307+4631dup
XM_011516185.1:c.7+4290dup	XP_011514487.1:n.7+4290dup
XM_011516186.1:c.307+4631dup	XP_011514488.1:n.307+4631dup
XM_011516185.2:c.7+4290dup	XP_011514487.1:n.7+4290dup
XM_011516186.3:c.307+4631dup	XP_011514488.1:n.307+4631dup
XM_017012196.1:c.130+4631dup	XP_016867685.1:n.130+4631dup
NM_000238.4:c.307+4631dup MANE Select	NP_000229.1:n.307+4631dup