Canonical Allele Identifier: CA2579063143

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977927G>C , CM000669.2:g.150977927G>C	GRCh38
NC_000007.13:g.150675015G>C , CM000669.1:g.150675015G>C	GRCh37
NC_000007.12:g.150305948G>C	NCBI36
NG_008916.1:g.5000C>G , LRG_288:g.5000C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.-14C>G MANE Select	ENSP00000262186.5:n.-14C>G
ENST00000262186.9:c.-14C>G	ENSP00000262186.5:n.-14C>G
ENST00000430723.4:c.-191C>G	ENSP00000387657.4:n.-191C>G
ENST00000532957.5:n.210C>G
NM_000238.3:c.-14C>G , LRG_288t1:c.-14C>G	NP_000229.1:n.-14C>G
NM_172056.2:c.-14C>G , LRG_288t2:c.-14C>G	NP_742053.1:n.-14C>G
XM_011516186.1:c.-14C>G	XP_011514488.1:n.-14C>G
XM_011516186.3:c.-14C>G	XP_011514488.1:n.-14C>G
NM_000238.4:c.-14C>G MANE Select	NP_000229.1:n.-14C>G