Canonical Allele Identifier: CA169090641

Gene: KCNH2

Linked Data

• dbSNP Id: rs143049592

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150975125_150975129dup , CM000669.2:g.150975125_150975129dup	GRCh38
NC_000007.13:g.150672213_150672217dup , CM000669.1:g.150672213_150672217dup	GRCh37
NC_000007.12:g.150303146_150303150dup	NCBI36
NG_008916.1:g.7799_7803dup , LRG_288:g.7799_7803dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.77-187_77-183dup MANE Select	ENSP00000262186.5:n.77-187_77-183dup
ENST00000262186.9:c.77-187_77-183dup	ENSP00000262186.5:n.77-187_77-183dup
ENST00000430723.4:c.-101-187_-101-183dup	ENSP00000387657.4:n.-101-187_-101-183dup
ENST00000532957.5:n.300-187_300-183dup
NM_000238.3:c.77-187_77-183dup , LRG_288t1:c.77-187_77-183dup	NP_000229.1:n.77-187_77-183dup
NM_172056.2:c.77-187_77-183dup , LRG_288t2:c.77-187_77-183dup	NP_742053.1:n.77-187_77-183dup
XM_011516186.1:c.77-187_77-183dup	XP_011514488.1:n.77-187_77-183dup
XM_011516186.3:c.77-187_77-183dup	XP_011514488.1:n.77-187_77-183dup
NM_000238.4:c.77-187_77-183dup MANE Select	NP_000229.1:n.77-187_77-183dup