Canonical Allele Identifier: CA2580077748

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1795256
• ClinVar RCV Id: RCV002431345 ; RCV003533266

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947832_150947847del , CM000669.2:g.150947832_150947847del	GRCh38
NC_000007.13:g.150644920_150644935del , CM000669.1:g.150644920_150644935del	GRCh37
NC_000007.12:g.150275853_150275868del	NCBI36
NG_008916.1:g.35085_35100del , LRG_288:g.35085_35100del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3562_3577del
ENST00000262186.10:c.2729_2744del MANE Select	ENSP00000262186.5:p.Pro910GlnfsTer?
ENST00000330883.9:c.1709_1724del	ENSP00000328531.4:p.Pro570GlnfsTer?
ENST00000262186.9:c.2729_2744del	ENSP00000262186.5:p.Pro910GlnfsTer?
ENST00000330883.8:c.1709_1724del	ENSP00000328531.4:p.Pro570GlnfsTer?
NM_000238.3:c.2729_2744del , LRG_288t1:c.2729_2744del	NP_000229.1:p.Pro910GlnfsTer?
NM_172057.2:c.1709_1724del , LRG_288t3:c.1709_1724del	NP_742054.1:p.Pro570GlnfsTer?
XM_011516185.1:c.2429_2444del	XP_011514487.1:p.Pro810GlnfsTer?
XM_011516186.1:c.2693-151_2693-136del	XP_011514488.1:n.2693-151_2693-136del
XM_011516185.2:c.2429_2444del	XP_011514487.1:p.Pro810GlnfsTer?
XM_011516186.3:c.2693-151_2693-136del	XP_011514488.1:n.2693-151_2693-136del
XM_017012195.1:c.2579_2594del	XP_016867684.1:p.Pro860GlnfsTer?
XM_017012196.1:c.2552_2567del	XP_016867685.1:p.Pro851GlnfsTer?
NM_000238.4:c.2729_2744del MANE Select	NP_000229.1:p.Pro910GlnfsTer?
NM_172057.3:c.1709_1724del	NP_742054.1:p.Pro570GlnfsTer?