Canonical Allele Identifier: CA2716181327

Gene: KCNH2

Linked Data

• dbSNP Id: rs2116942132

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949143_150949163del , CM000669.2:g.150949143_150949163del	GRCh38
NC_000007.13:g.150646231_150646251del , CM000669.1:g.150646231_150646251del	GRCh37
NC_000007.12:g.150277164_150277184del	NCBI36
NG_008916.1:g.33766_33786del , LRG_288:g.33766_33786del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3232-112_3232-92del
ENST00000262186.10:c.2399-112_2399-92del MANE Select	ENSP00000262186.5:n.2399-112_2399-92del
ENST00000330883.9:c.1379-112_1379-92del	ENSP00000328531.4:n.1379-112_1379-92del
ENST00000262186.9:c.2399-112_2399-92del	ENSP00000262186.5:n.2399-112_2399-92del
ENST00000330883.8:c.1379-112_1379-92del	ENSP00000328531.4:n.1379-112_1379-92del
NM_000238.3:c.2399-112_2399-92del , LRG_288t1:c.2399-112_2399-92del	NP_000229.1:n.2399-112_2399-92del
NM_172057.2:c.1379-112_1379-92del , LRG_288t3:c.1379-112_1379-92del	NP_742054.1:n.1379-112_1379-92del
XM_011516185.1:c.2099-112_2099-92del	XP_011514487.1:n.2099-112_2099-92del
XM_011516186.1:c.2399-112_2399-92del	XP_011514488.1:n.2399-112_2399-92del
XM_011516185.2:c.2099-112_2099-92del	XP_011514487.1:n.2099-112_2099-92del
XM_011516186.3:c.2399-112_2399-92del	XP_011514488.1:n.2399-112_2399-92del
XM_017012195.1:c.2249-112_2249-92del	XP_016867684.1:n.2249-112_2249-92del
XM_017012196.1:c.2222-112_2222-92del	XP_016867685.1:n.2222-112_2222-92del
NM_000238.4:c.2399-112_2399-92del MANE Select	NP_000229.1:n.2399-112_2399-92del
NM_172057.3:c.1379-112_1379-92del	NP_742054.1:n.1379-112_1379-92del