Canonical Allele Identifier: CA2579062995

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959513C>G , CM000669.2:g.150959513C>G	GRCh38
NC_000007.13:g.150656601C>G , CM000669.1:g.150656601C>G	GRCh37
NC_000007.12:g.150287534C>G	NCBI36
NG_008916.1:g.23414G>C , LRG_288:g.23414G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1305+59G>C
ENST00000262186.10:c.472+59G>C MANE Select	ENSP00000262186.5:n.472+59G>C
ENST00000262186.9:c.472+59G>C	ENSP00000262186.5:n.472+59G>C
ENST00000430723.4:c.234+120G>C	ENSP00000387657.4:n.234+120G>C
ENST00000532957.5:n.695+59G>C
NM_000238.3:c.472+59G>C , LRG_288t1:c.472+59G>C	NP_000229.1:n.472+59G>C
NM_172056.2:c.472+59G>C , LRG_288t2:c.472+59G>C	NP_742053.1:n.472+59G>C
XM_011516185.1:c.172+59G>C	XP_011514487.1:n.172+59G>C
XM_011516186.1:c.472+59G>C	XP_011514488.1:n.472+59G>C
XM_011516185.2:c.172+59G>C	XP_011514487.1:n.172+59G>C
XM_011516186.3:c.472+59G>C	XP_011514488.1:n.472+59G>C
XM_017012195.1:c.322+59G>C	XP_016867684.1:n.322+59G>C
XM_017012196.1:c.295+59G>C	XP_016867685.1:n.295+59G>C
NM_000238.4:c.472+59G>C MANE Select	NP_000229.1:n.472+59G>C