Canonical Allele Identifier: CA2573141855

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1439179
• ClinVar RCV Id: RCV001958050
• dbSNP Id: rs2116940397

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948912_150948913del , CM000669.2:g.150948912_150948913del	GRCh38
NC_000007.13:g.150646000_150646001del , CM000669.1:g.150646000_150646001del	GRCh37
NC_000007.12:g.150276933_150276934del	NCBI36
NG_008916.1:g.34015_34016del , LRG_288:g.34015_34016del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3369_3370del
ENST00000262186.10:c.2536_2537del MANE Select	ENSP00000262186.5:p.Pro846Ter
ENST00000330883.9:c.1516_1517del	ENSP00000328531.4:p.Pro506Ter
ENST00000262186.9:c.2536_2537del	ENSP00000262186.5:p.Pro846Ter
ENST00000330883.8:c.1516_1517del	ENSP00000328531.4:p.Pro506Ter
NM_000238.3:c.2536_2537del , LRG_288t1:c.2536_2537del	NP_000229.1:p.Pro846Ter
NM_172057.2:c.1516_1517del , LRG_288t3:c.1516_1517del	NP_742054.1:p.Pro506Ter
XM_011516185.1:c.2236_2237del	XP_011514487.1:p.Pro746Ter
XM_011516186.1:c.2536_2537del	XP_011514488.1:p.Pro846Ter
XM_011516185.2:c.2236_2237del	XP_011514487.1:p.Pro746Ter
XM_011516186.3:c.2536_2537del	XP_011514488.1:p.Pro846Ter
XM_017012195.1:c.2386_2387del	XP_016867684.1:p.Pro796Ter
XM_017012196.1:c.2359_2360del	XP_016867685.1:p.Pro787Ter
NM_000238.4:c.2536_2537del MANE Select	NP_000229.1:p.Pro846Ter
NM_172057.3:c.1516_1517del	NP_742054.1:p.Pro506Ter