Canonical Allele Identifier: CA1752442131

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801950275

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150975157del , CM000669.2:g.150975157del	GRCh38
NC_000007.13:g.150672245del , CM000669.1:g.150672245del	GRCh37
NC_000007.12:g.150303178del	NCBI36
NG_008916.1:g.7771del , LRG_288:g.7771del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.77-215del MANE Select	ENSP00000262186.5:n.77-215del
ENST00000262186.9:c.77-215del	ENSP00000262186.5:n.77-215del
ENST00000430723.4:c.-101-215del	ENSP00000387657.4:n.-101-215del
ENST00000532957.5:n.300-215del
NM_000238.3:c.77-215del , LRG_288t1:c.77-215del	NP_000229.1:n.77-215del
NM_172056.2:c.77-215del , LRG_288t2:c.77-215del	NP_742053.1:n.77-215del
XM_011516186.1:c.77-215del	XP_011514488.1:n.77-215del
XM_011516186.3:c.77-215del	XP_011514488.1:n.77-215del
NM_000238.4:c.77-215del MANE Select	NP_000229.1:n.77-215del