Canonical Allele Identifier: CA2567370311

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958324-G-GAT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958324_150958325insAT , CM000669.2:g.150958324_150958325insAT	GRCh38
NC_000007.13:g.150655412_150655413insAT , CM000669.1:g.150655412_150655413insAT	GRCh37
NC_000007.12:g.150286345_150286346insAT	NCBI36
NG_008916.1:g.24602_24603insAT , LRG_288:g.24602_24603insAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1483_1484insAT
ENST00000262186.10:c.650_651insAT MANE Select	ENSP00000262186.5:p.Met218SerfsTer?
ENST00000262186.9:c.650_651insAT	ENSP00000262186.5:p.Met218SerfsTer?
ENST00000430723.4:c.302_303insAT	ENSP00000387657.4:p.Met102SerfsTer?
ENST00000532957.5:n.873_874insAT
NM_000238.3:c.650_651insAT , LRG_288t1:c.650_651insAT	NP_000229.1:p.Met218SerfsTer?
NM_172056.2:c.650_651insAT , LRG_288t2:c.650_651insAT	NP_742053.1:p.Met218SerfsTer?
XM_011516185.1:c.350_351insAT	XP_011514487.1:p.Met118SerfsTer?
XM_011516186.1:c.650_651insAT	XP_011514488.1:p.Met218SerfsTer?
XM_011516185.2:c.350_351insAT	XP_011514487.1:p.Met118SerfsTer?
XM_011516186.3:c.650_651insAT	XP_011514488.1:p.Met218SerfsTer?
XM_017012195.1:c.500_501insAT	XP_016867684.1:p.Met168SerfsTer?
XM_017012196.1:c.473_474insAT	XP_016867685.1:p.Met159SerfsTer?
NM_000238.4:c.650_651insAT MANE Select	NP_000229.1:p.Met218SerfsTer?