Canonical Allele Identifier: CA2579063028

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959775C>G , CM000669.2:g.150959775C>G	GRCh38
NC_000007.13:g.150656863C>G , CM000669.1:g.150656863C>G	GRCh37
NC_000007.12:g.150287796C>G	NCBI36
NG_008916.1:g.23152G>C , LRG_288:g.23152G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1102G>C
ENST00000262186.10:c.308-39G>C MANE Select	ENSP00000262186.5:n.308-39G>C
ENST00000262186.9:c.308-39G>C	ENSP00000262186.5:n.308-39G>C
ENST00000430723.4:c.131-39G>C	ENSP00000387657.4:n.131-39G>C
ENST00000532957.5:n.531-39G>C
NM_000238.3:c.308-39G>C , LRG_288t1:c.308-39G>C	NP_000229.1:n.308-39G>C
NM_172056.2:c.308-39G>C , LRG_288t2:c.308-39G>C	NP_742053.1:n.308-39G>C
XM_011516185.1:c.8-39G>C	XP_011514487.1:n.8-39G>C
XM_011516186.1:c.308-39G>C	XP_011514488.1:n.308-39G>C
XM_011516185.2:c.8-39G>C	XP_011514487.1:n.8-39G>C
XM_011516186.3:c.308-39G>C	XP_011514488.1:n.308-39G>C
XM_017012195.1:c.158-39G>C	XP_016867684.1:n.158-39G>C
XM_017012196.1:c.131-39G>C	XP_016867685.1:n.131-39G>C
NM_000238.4:c.308-39G>C MANE Select	NP_000229.1:n.308-39G>C