Canonical Allele Identifier: CA2573141849

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1677969
• ClinVar RCV Id: RCV002224560
• dbSNP Id: rs2116931657

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947624_150947629delinsACAGGGGGT , CM000669.2:g.150947624_150947629delinsACAGGGGGT	GRCh38
NC_000007.13:g.150644712_150644717delinsACAGGGGGT , CM000669.1:g.150644712_150644717delinsACAGGGGGT	GRCh37
NC_000007.12:g.150275645_150275650delinsACAGGGGGT	NCBI36
NG_008916.1:g.35298_35303delinsACCCCCTGT , LRG_288:g.35298_35303delinsACCCCCTGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3775_3780delinsACCCCCTGT
ENST00000262186.10:c.2942_2947delinsACCCCCTGT MANE Select	ENSP00000262186.5:p.Ser981_Thr983delinsAs...
ENST00000330883.9:c.1922_1927delinsACCCCCTGT	ENSP00000328531.4:p.Ser641_Thr643delinsAs...
ENST00000262186.9:c.2942_2947delinsACCCCCTGT	ENSP00000262186.5:p.Ser981_Thr983delinsAs...
ENST00000330883.8:c.1922_1927delinsACCCCCTGT	ENSP00000328531.4:p.Ser641_Thr643delinsAs...
NM_000238.3:c.2942_2947delinsACCCCCTGT , LRG_288t1:c.2942_2947delinsACCCCCTGT	NP_000229.1:p.Ser981_Thr983delinsAsnProLe...
NM_172057.2:c.1922_1927delinsACCCCCTGT , LRG_288t3:c.1922_1927delinsACCCCCTGT	NP_742054.1:p.Ser641_Thr643delinsAsnProLe...
XM_011516185.1:c.2642_2647delinsACCCCCTGT	XP_011514487.1:p.Ser881_Thr883delinsAsnPr...
XM_011516186.1:c.*22_*27delinsACCCCCTGT	XP_011514488.1:n.*22_*27delinsACCCCCTGT
XM_011516185.2:c.2642_2647delinsACCCCCTGT	XP_011514487.1:p.Ser881_Thr883delinsAsnPr...
XM_011516186.3:c.*22_*27delinsACCCCCTGT	XP_011514488.1:n.*22_*27delinsACCCCCTGT
XM_017012195.1:c.2792_2797delinsACCCCCTGT	XP_016867684.1:p.Ser931_Thr933delinsAsnPr...
XM_017012196.1:c.2765_2770delinsACCCCCTGT	XP_016867685.1:p.Ser922_Thr924delinsAsnPr...
NM_000238.4:c.2942_2947delinsACCCCCTGT MANE Select	NP_000229.1:p.Ser981_Thr983delinsAsnProLe...
NM_172057.3:c.1922_1927delinsACCCCCTGT	NP_742054.1:p.Ser641_Thr643delinsAsnProLe...