Canonical Allele Identifier: CA1752420255

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801505789

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959822T>G , CM000669.2:g.150959822T>G	GRCh38
NC_000007.13:g.150656910T>G , CM000669.1:g.150656910T>G	GRCh37
NC_000007.12:g.150287843T>G	NCBI36
NG_008916.1:g.23105A>C , LRG_288:g.23105A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1055A>C
ENST00000262186.10:c.308-86A>C MANE Select	ENSP00000262186.5:n.308-86A>C
ENST00000262186.9:c.308-86A>C	ENSP00000262186.5:n.308-86A>C
ENST00000430723.4:c.131-86A>C	ENSP00000387657.4:n.131-86A>C
ENST00000532957.5:n.531-86A>C
NM_000238.3:c.308-86A>C , LRG_288t1:c.308-86A>C	NP_000229.1:n.308-86A>C
NM_172056.2:c.308-86A>C , LRG_288t2:c.308-86A>C	NP_742053.1:n.308-86A>C
XM_011516185.1:c.8-86A>C	XP_011514487.1:n.8-86A>C
XM_011516186.1:c.308-86A>C	XP_011514488.1:n.308-86A>C
XM_011516185.2:c.8-86A>C	XP_011514487.1:n.8-86A>C
XM_011516186.3:c.308-86A>C	XP_011514488.1:n.308-86A>C
XM_017012195.1:c.158-86A>C	XP_016867684.1:n.158-86A>C
XM_017012196.1:c.131-86A>C	XP_016867685.1:n.131-86A>C
NM_000238.4:c.308-86A>C MANE Select	NP_000229.1:n.308-86A>C