Canonical Allele Identifier: CA2685600508

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948488-CGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948489_150948490del , CM000669.2:g.150948489_150948490del	GRCh38
NC_000007.13:g.150645577_150645578del , CM000669.1:g.150645577_150645578del	GRCh37
NC_000007.12:g.150276510_150276511del	NCBI36
NG_008916.1:g.34437_34438del , LRG_288:g.34437_34438del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3479_3480del
ENST00000262186.10:c.2646_2647del MANE Select	ENSP00000262186.5:p.Ser882ArgfsTer?
ENST00000330883.9:c.1626_1627del	ENSP00000328531.4:p.Ser542ArgfsTer?
ENST00000262186.9:c.2646_2647del	ENSP00000262186.5:p.Ser882ArgfsTer?
ENST00000330883.8:c.1626_1627del	ENSP00000328531.4:p.Ser542ArgfsTer?
NM_000238.3:c.2646_2647del , LRG_288t1:c.2646_2647del	NP_000229.1:p.Ser882ArgfsTer?
NM_172057.2:c.1626_1627del , LRG_288t3:c.1626_1627del	NP_742054.1:p.Ser542ArgfsTer?
XM_011516185.1:c.2346_2347del	XP_011514487.1:p.Ser782ArgfsTer?
XM_011516186.1:c.2646_2647del	XP_011514488.1:p.Ser882ArgfsTer?
XM_011516185.2:c.2346_2347del	XP_011514487.1:p.Ser782ArgfsTer?
XM_011516186.3:c.2646_2647del	XP_011514488.1:p.Ser882ArgfsTer?
XM_017012195.1:c.2496_2497del	XP_016867684.1:p.Ser832ArgfsTer?
XM_017012196.1:c.2469_2470del	XP_016867685.1:p.Ser823ArgfsTer?
NM_000238.4:c.2646_2647del MANE Select	NP_000229.1:p.Ser882ArgfsTer?
NM_172057.3:c.1626_1627del	NP_742054.1:p.Ser542ArgfsTer?