Canonical Allele Identifier: CA1752429559

Gene: KCNH2

Linked Data

• dbSNP Id: rs1800950555

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947545_150947550dup , CM000669.2:g.150947545_150947550dup	GRCh38
NC_000007.13:g.150644633_150644638dup , CM000669.1:g.150644633_150644638dup	GRCh37
NC_000007.12:g.150275566_150275571dup	NCBI36
NG_008916.1:g.35378_35383dup , LRG_288:g.35378_35383dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3799-35_3799-30dup
ENST00000262186.10:c.2966-35_2966-30dup MANE Select	ENSP00000262186.5:n.2966-35_2966-30dup
ENST00000330883.9:c.1946-35_1946-30dup	ENSP00000328531.4:n.1946-35_1946-30dup
ENST00000262186.9:c.2966-35_2966-30dup	ENSP00000262186.5:n.2966-35_2966-30dup
ENST00000330883.8:c.1946-35_1946-30dup	ENSP00000328531.4:n.1946-35_1946-30dup
NM_000238.3:c.2966-35_2966-30dup , LRG_288t1:c.2966-35_2966-30dup	NP_000229.1:n.2966-35_2966-30dup
NM_172057.2:c.1946-35_1946-30dup , LRG_288t3:c.1946-35_1946-30dup	NP_742054.1:n.1946-35_1946-30dup
XM_011516185.1:c.2666-35_2666-30dup	XP_011514487.1:n.2666-35_2666-30dup
XM_011516186.1:c.*46-35_*46-30dup	XP_011514488.1:n.*46-35_*46-30dup
XM_011516185.2:c.2666-35_2666-30dup	XP_011514487.1:n.2666-35_2666-30dup
XM_011516186.3:c.*46-35_*46-30dup	XP_011514488.1:n.*46-35_*46-30dup
XM_017012195.1:c.2816-35_2816-30dup	XP_016867684.1:n.2816-35_2816-30dup
XM_017012196.1:c.2789-35_2789-30dup	XP_016867685.1:n.2789-35_2789-30dup
NM_000238.4:c.2966-35_2966-30dup MANE Select	NP_000229.1:n.2966-35_2966-30dup
NM_172057.3:c.1946-35_1946-30dup	NP_742054.1:n.1946-35_1946-30dup