Canonical Allele Identifier: CA2685602168

Gene: KCNH2

Linked Data

• dbSNP Id: rs2116934487
• gnomAD v4: 7-150947910-GGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947915_150947917del , CM000669.2:g.150947915_150947917del	GRCh38
NC_000007.13:g.150645003_150645005del , CM000669.1:g.150645003_150645005del	GRCh37
NC_000007.12:g.150275936_150275938del	NCBI36
NG_008916.1:g.35014_35016del , LRG_288:g.35014_35016del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3526-35_3526-33del
ENST00000262186.10:c.2693-35_2693-33del MANE Select	ENSP00000262186.5:n.2693-35_2693-33del
ENST00000330883.9:c.1673-35_1673-33del	ENSP00000328531.4:n.1673-35_1673-33del
ENST00000262186.9:c.2693-35_2693-33del	ENSP00000262186.5:n.2693-35_2693-33del
ENST00000330883.8:c.1673-35_1673-33del	ENSP00000328531.4:n.1673-35_1673-33del
NM_000238.3:c.2693-35_2693-33del , LRG_288t1:c.2693-35_2693-33del	NP_000229.1:n.2693-35_2693-33del
NM_172057.2:c.1673-35_1673-33del , LRG_288t3:c.1673-35_1673-33del	NP_742054.1:n.1673-35_1673-33del
XM_011516185.1:c.2393-35_2393-33del	XP_011514487.1:n.2393-35_2393-33del
XM_011516186.1:c.2693-222_2693-220del	XP_011514488.1:n.2693-222_2693-220del
XM_011516185.2:c.2393-35_2393-33del	XP_011514487.1:n.2393-35_2393-33del
XM_011516186.3:c.2693-222_2693-220del	XP_011514488.1:n.2693-222_2693-220del
XM_017012195.1:c.2543-35_2543-33del	XP_016867684.1:n.2543-35_2543-33del
XM_017012196.1:c.2516-35_2516-33del	XP_016867685.1:n.2516-35_2516-33del
NM_000238.4:c.2693-35_2693-33del MANE Select	NP_000229.1:n.2693-35_2693-33del
NM_172057.3:c.1673-35_1673-33del	NP_742054.1:n.1673-35_1673-33del