Canonical Allele Identifier: CA918162868

Gene: KCNH2

Linked Data

• dbSNP Id: rs1554424040

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947368_150947369insCGTCGCCCCGGGGC , CM000669.2:g.150947368_150947369insCGTCGCCCCGGGGC	GRCh38
NC_000007.13:g.150644456_150644457insCGTCGCCCCGGGGC , CM000669.1:g.150644456_150644457insCGTCGCCCCGGGGC	GRCh37
NC_000007.12:g.150275389_150275390insCGTCGCCCCGGGGC	NCBI36
NG_008916.1:g.35559_35560insCCCCGGGGCGACGG , LRG_288:g.35559_35560insCCCCGGGGCGACGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3945_3946insCCCCGGGGCGACGG
ENST00000262186.10:c.3112_3113insCCCCGGGGCGACGG MANE Select	ENSP00000262186.5:p.Val1038AlafsTer24
ENST00000330883.9:c.2092_2093insCCCCGGGGCGACGG	ENSP00000328531.4:p.Val698AlafsTer24
ENST00000262186.9:c.3112_3113insCCCCGGGGCGACGG	ENSP00000262186.5:p.Val1038AlafsTer24
ENST00000330883.8:c.2092_2093insCCCCGGGGCGACGG	ENSP00000328531.4:p.Val698AlafsTer24
NM_000238.3:c.3112_3113insCCCCGGGGCGACGG , LRG_288t1:c.3112_3113insCCCCGGGGCGACGG	NP_000229.1:p.Val1038AlafsTer24
NM_172057.2:c.2092_2093insCCCCGGGGCGACGG , LRG_288t3:c.2092_2093insCCCCGGGGCGACGG	NP_742054.1:p.Val698AlafsTer24
XM_011516185.1:c.2812_2813insCCCCGGGGCGACGG	XP_011514487.1:p.Val938AlafsTer24
XM_011516185.2:c.2812_2813insCCCCGGGGCGACGG	XP_011514487.1:p.Val938AlafsTer24
XM_017012195.1:c.2962_2963insCCCCGGGGCGACGG	XP_016867684.1:p.Val988AlafsTer24
XM_017012196.1:c.2935_2936insCCCCGGGGCGACGG	XP_016867685.1:p.Val979AlafsTer24
NM_000238.4:c.3112_3113insCCCCGGGGCGACGG MANE Select	NP_000229.1:p.Val1038AlafsTer24
NM_172057.3:c.2092_2093insCCCCGGGGCGACGG	NP_742054.1:p.Val698AlafsTer24