Canonical Allele Identifier: CA369862027

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150655145A>T (hg19) ; chr7:g.150958057A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958057A>T , CM000669.2:g.150958057A>T	GRCh38
NC_000007.13:g.150655145A>T , CM000669.1:g.150655145A>T	GRCh37
NC_000007.12:g.150286078A>T	NCBI36
NG_008916.1:g.24870T>A , LRG_288:g.24870T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1749+2T>A
ENST00000262186.10:c.916+2T>A MANE Select	ENSP00000262186.5:n.916+2T>A
ENST00000262186.9:c.916+2T>A	ENSP00000262186.5:n.916+2T>A
ENST00000430723.4:c.568+2T>A	ENSP00000387657.4:n.568+2T>A
ENST00000532957.5:n.1139+2T>A
NM_000238.3:c.916+2T>A , LRG_288t1:c.916+2T>A	NP_000229.1:n.916+2T>A
NM_172056.2:c.916+2T>A , LRG_288t2:c.916+2T>A	NP_742053.1:n.916+2T>A
XM_011516185.1:c.616+2T>A	XP_011514487.1:n.616+2T>A
XM_011516186.1:c.916+2T>A	XP_011514488.1:n.916+2T>A
XM_011516185.2:c.616+2T>A	XP_011514487.1:n.616+2T>A
XM_011516186.3:c.916+2T>A	XP_011514488.1:n.916+2T>A
XM_017012195.1:c.766+2T>A	XP_016867684.1:n.766+2T>A
XM_017012196.1:c.739+2T>A	XP_016867685.1:n.739+2T>A
NM_000238.4:c.916+2T>A MANE Select	NP_000229.1:n.916+2T>A