Canonical Allele Identifier: CA2685602482

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948407-TCCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948408_150948411del , CM000669.2:g.150948408_150948411del	GRCh38
NC_000007.13:g.150645496_150645499del , CM000669.1:g.150645496_150645499del	GRCh37
NC_000007.12:g.150276429_150276432del	NCBI36
NG_008916.1:g.34516_34519del , LRG_288:g.34516_34519del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+33_3525+36del
ENST00000262186.10:c.2692+33_2692+36del MANE Select	ENSP00000262186.5:n.2692+33_2692+36del
ENST00000330883.9:c.1672+33_1672+36del	ENSP00000328531.4:n.1672+33_1672+36del
ENST00000262186.9:c.2692+33_2692+36del	ENSP00000262186.5:n.2692+33_2692+36del
ENST00000330883.8:c.1672+33_1672+36del	ENSP00000328531.4:n.1672+33_1672+36del
NM_000238.3:c.2692+33_2692+36del , LRG_288t1:c.2692+33_2692+36del	NP_000229.1:n.2692+33_2692+36del
NM_172057.2:c.1672+33_1672+36del , LRG_288t3:c.1672+33_1672+36del	NP_742054.1:n.1672+33_1672+36del
XM_011516185.1:c.2392+33_2392+36del	XP_011514487.1:n.2392+33_2392+36del
XM_011516186.1:c.2692+33_2692+36del	XP_011514488.1:n.2692+33_2692+36del
XM_011516185.2:c.2392+33_2392+36del	XP_011514487.1:n.2392+33_2392+36del
XM_011516186.3:c.2692+33_2692+36del	XP_011514488.1:n.2692+33_2692+36del
XM_017012195.1:c.2542+33_2542+36del	XP_016867684.1:n.2542+33_2542+36del
XM_017012196.1:c.2515+33_2515+36del	XP_016867685.1:n.2515+33_2515+36del
NM_000238.4:c.2692+33_2692+36del MANE Select	NP_000229.1:n.2692+33_2692+36del
NM_172057.3:c.1672+33_1672+36del	NP_742054.1:n.1672+33_1672+36del