Canonical Allele Identifier: CA1752431052

Gene: KCNH2

Linked Data

• dbSNP Id: rs1800997215

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948384T>A , CM000669.2:g.150948384T>A	GRCh38
NC_000007.13:g.150645472T>A , CM000669.1:g.150645472T>A	GRCh37
NC_000007.12:g.150276405T>A	NCBI36
NG_008916.1:g.34543A>T , LRG_288:g.34543A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+60A>T
ENST00000262186.10:c.2692+60A>T MANE Select	ENSP00000262186.5:n.2692+60A>T
ENST00000330883.9:c.1672+60A>T	ENSP00000328531.4:n.1672+60A>T
ENST00000262186.9:c.2692+60A>T	ENSP00000262186.5:n.2692+60A>T
ENST00000330883.8:c.1672+60A>T	ENSP00000328531.4:n.1672+60A>T
NM_000238.3:c.2692+60A>T , LRG_288t1:c.2692+60A>T	NP_000229.1:n.2692+60A>T
NM_172057.2:c.1672+60A>T , LRG_288t3:c.1672+60A>T	NP_742054.1:n.1672+60A>T
XM_011516185.1:c.2392+60A>T	XP_011514487.1:n.2392+60A>T
XM_011516186.1:c.2692+60A>T	XP_011514488.1:n.2692+60A>T
XM_011516185.2:c.2392+60A>T	XP_011514487.1:n.2392+60A>T
XM_011516186.3:c.2692+60A>T	XP_011514488.1:n.2692+60A>T
XM_017012195.1:c.2542+60A>T	XP_016867684.1:n.2542+60A>T
XM_017012196.1:c.2515+60A>T	XP_016867685.1:n.2515+60A>T
NM_000238.4:c.2692+60A>T MANE Select	NP_000229.1:n.2692+60A>T
NM_172057.3:c.1672+60A>T	NP_742054.1:n.1672+60A>T