Canonical Allele Identifier: CA2685602438

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948391-TCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948395_150948435del , CM000669.2:g.150948395_150948435del	GRCh38
NC_000007.13:g.150645483_150645523del , CM000669.1:g.150645483_150645523del	GRCh37
NC_000007.12:g.150276416_150276456del	NCBI36
NG_008916.1:g.34495_34535del , LRG_288:g.34495_34535del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3525+12_3525+52del
ENST00000262186.10:c.2692+12_2692+52del MANE Select	ENSP00000262186.5:n.2692+12_2692+52del
ENST00000330883.9:c.1672+12_1672+52del	ENSP00000328531.4:n.1672+12_1672+52del
ENST00000262186.9:c.2692+12_2692+52del	ENSP00000262186.5:n.2692+12_2692+52del
ENST00000330883.8:c.1672+12_1672+52del	ENSP00000328531.4:n.1672+12_1672+52del
NM_000238.3:c.2692+12_2692+52del , LRG_288t1:c.2692+12_2692+52del	NP_000229.1:n.2692+12_2692+52del
NM_172057.2:c.1672+12_1672+52del , LRG_288t3:c.1672+12_1672+52del	NP_742054.1:n.1672+12_1672+52del
XM_011516185.1:c.2392+12_2392+52del	XP_011514487.1:n.2392+12_2392+52del
XM_011516186.1:c.2692+12_2692+52del	XP_011514488.1:n.2692+12_2692+52del
XM_011516185.2:c.2392+12_2392+52del	XP_011514487.1:n.2392+12_2392+52del
XM_011516186.3:c.2692+12_2692+52del	XP_011514488.1:n.2692+12_2692+52del
XM_017012195.1:c.2542+12_2542+52del	XP_016867684.1:n.2542+12_2542+52del
XM_017012196.1:c.2515+12_2515+52del	XP_016867685.1:n.2515+12_2515+52del
NM_000238.4:c.2692+12_2692+52del MANE Select	NP_000229.1:n.2692+12_2692+52del
NM_172057.3:c.1672+12_1672+52del	NP_742054.1:n.1672+12_1672+52del