Canonical Allele Identifier: CA2579062652

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948815del , CM000669.2:g.150948815del	GRCh38
NC_000007.13:g.150645903del , CM000669.1:g.150645903del	GRCh37
NC_000007.12:g.150276836del	NCBI36
NG_008916.1:g.34113del , LRG_288:g.34113del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3425+42del
ENST00000262186.10:c.2592+42del MANE Select	ENSP00000262186.5:n.2592+42del
ENST00000330883.9:c.1572+42del	ENSP00000328531.4:n.1572+42del
ENST00000262186.9:c.2592+42del	ENSP00000262186.5:n.2592+42del
ENST00000330883.8:c.1572+42del	ENSP00000328531.4:n.1572+42del
NM_000238.3:c.2592+42del , LRG_288t1:c.2592+42del	NP_000229.1:n.2592+42del
NM_172057.2:c.1572+42del , LRG_288t3:c.1572+42del	NP_742054.1:n.1572+42del
XM_011516185.1:c.2292+42del	XP_011514487.1:n.2292+42del
XM_011516186.1:c.2592+42del	XP_011514488.1:n.2592+42del
XM_011516185.2:c.2292+42del	XP_011514487.1:n.2292+42del
XM_011516186.3:c.2592+42del	XP_011514488.1:n.2592+42del
XM_017012195.1:c.2442+42del	XP_016867684.1:n.2442+42del
XM_017012196.1:c.2415+42del	XP_016867685.1:n.2415+42del
NM_000238.4:c.2592+42del MANE Select	NP_000229.1:n.2592+42del
NM_172057.3:c.1572+42del	NP_742054.1:n.1572+42del