Canonical Allele Identifier: CA2573141852

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1527874
• ClinVar RCV Id: RCV002074455
• dbSNP Id: rs2116933757

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947816_150947841dup , CM000669.2:g.150947816_150947841dup	GRCh38
NC_000007.13:g.150644904_150644929dup , CM000669.1:g.150644904_150644929dup	GRCh37
NC_000007.12:g.150275837_150275862dup	NCBI36
NG_008916.1:g.35087_35112dup , LRG_288:g.35087_35112dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3564_3589dup
ENST00000262186.10:c.2731_2756dup MANE Select	ENSP00000262186.5:p.Ser919ArgfsTer?
ENST00000330883.9:c.1711_1736dup	ENSP00000328531.4:p.Ser579ArgfsTer?
ENST00000262186.9:c.2731_2756dup	ENSP00000262186.5:p.Ser919ArgfsTer?
ENST00000330883.8:c.1711_1736dup	ENSP00000328531.4:p.Ser579ArgfsTer?
NM_000238.3:c.2731_2756dup , LRG_288t1:c.2731_2756dup	NP_000229.1:p.Ser919ArgfsTer?
NM_172057.2:c.1711_1736dup , LRG_288t3:c.1711_1736dup	NP_742054.1:p.Ser579ArgfsTer?
XM_011516185.1:c.2431_2456dup	XP_011514487.1:p.Ser819ArgfsTer?
XM_011516186.1:c.2693-149_2693-124dup	XP_011514488.1:n.2693-149_2693-124dup
XM_011516185.2:c.2431_2456dup	XP_011514487.1:p.Ser819ArgfsTer?
XM_011516186.3:c.2693-149_2693-124dup	XP_011514488.1:n.2693-149_2693-124dup
XM_017012195.1:c.2581_2606dup	XP_016867684.1:p.Ser869ArgfsTer?
XM_017012196.1:c.2554_2579dup	XP_016867685.1:p.Ser860ArgfsTer?
NM_000238.4:c.2731_2756dup MANE Select	NP_000229.1:p.Ser919ArgfsTer?
NM_172057.3:c.1711_1736dup	NP_742054.1:p.Ser579ArgfsTer?