Canonical Allele Identifier: CA2695208689

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150946915_150946922del , CM000669.2:g.150946915_150946922del	GRCh38
NC_000007.13:g.150644003_150644010del , CM000669.1:g.150644003_150644010del	GRCh37
NC_000007.12:g.150274936_150274943del	NCBI36
NG_008916.1:g.36009_36016del , LRG_288:g.36009_36016del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4122_4129del
ENST00000262186.10:c.3289_3296del MANE Select	ENSP00000262186.5:p.Val1097ProfsTer19
ENST00000330883.9:c.2269_2276del	ENSP00000328531.4:p.Val757ProfsTer19
ENST00000262186.9:c.3289_3296del	ENSP00000262186.5:p.Val1097ProfsTer19
ENST00000330883.8:c.2269_2276del	ENSP00000328531.4:p.Val757ProfsTer19
NM_000238.3:c.3289_3296del , LRG_288t1:c.3289_3296del	NP_000229.1:p.Val1097ProfsTer19
NM_172057.2:c.2269_2276del , LRG_288t3:c.2269_2276del	NP_742054.1:p.Val757ProfsTer19
XM_011516185.1:c.2989_2996del	XP_011514487.1:p.Val997ProfsTer19
XM_011516185.2:c.2989_2996del	XP_011514487.1:p.Val997ProfsTer19
XM_017012195.1:c.3139_3146del	XP_016867684.1:p.Val1047ProfsTer19
XM_017012196.1:c.3112_3119del	XP_016867685.1:p.Val1038ProfsTer19
NM_000238.4:c.3289_3296del MANE Select	NP_000229.1:p.Val1097ProfsTer19
NM_172057.3:c.2269_2276del	NP_742054.1:p.Val757ProfsTer19