Canonical Allele Identifier: CA658656012

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 456919
• ClinVar RCV Id: RCV000529822 ; RCV001008899
• dbSNP Id: rs1554424079
• MyVariant Identifiers: chr7:g.150644470_150644471dup (hg19) ; chr7:g.150947382_150947383dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947383_150947384dup , CM000669.2:g.150947383_150947384dup	GRCh38
NC_000007.13:g.150644471_150644472dup , CM000669.1:g.150644471_150644472dup	GRCh37
NC_000007.12:g.150275404_150275405dup	NCBI36
NG_008916.1:g.35544_35545dup , LRG_288:g.35544_35545dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3930_3931dup
ENST00000262186.10:c.3097_3098dup MANE Select	ENSP00000262186.5:p.Pro1034GlyfsTer24
ENST00000330883.9:c.2077_2078dup	ENSP00000328531.4:p.Pro694GlyfsTer24
ENST00000262186.9:c.3097_3098dup	ENSP00000262186.5:p.Pro1034GlyfsTer24
ENST00000330883.8:c.2077_2078dup	ENSP00000328531.4:p.Pro694GlyfsTer24
NM_000238.3:c.3097_3098dup , LRG_288t1:c.3097_3098dup	NP_000229.1:p.Pro1034GlyfsTer24
NM_172057.2:c.2077_2078dup , LRG_288t3:c.2077_2078dup	NP_742054.1:p.Pro694GlyfsTer24
XM_011516185.1:c.2797_2798dup	XP_011514487.1:p.Pro934GlyfsTer24
XM_011516185.2:c.2797_2798dup	XP_011514487.1:p.Pro934GlyfsTer24
XM_017012195.1:c.2947_2948dup	XP_016867684.1:p.Pro984GlyfsTer24
XM_017012196.1:c.2920_2921dup	XP_016867685.1:p.Pro975GlyfsTer24
NM_000238.4:c.3097_3098dup MANE Select	NP_000229.1:p.Pro1034GlyfsTer24
NM_172057.3:c.2077_2078dup	NP_742054.1:p.Pro694GlyfsTer24