Canonical Allele Identifier: CA369853949

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150645625T>G (hg19) ; chr7:g.150948537T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948537T>G , CM000669.2:g.150948537T>G	GRCh38
NC_000007.13:g.150645625T>G , CM000669.1:g.150645625T>G	GRCh37
NC_000007.12:g.150276558T>G	NCBI36
NG_008916.1:g.34390A>C , LRG_288:g.34390A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3432A>C
ENST00000262186.10:c.2599A>C MANE Select	ENSP00000262186.5:p.Met867Leu
ENST00000330883.9:c.1579A>C	ENSP00000328531.4:p.Met527Leu
ENST00000262186.9:c.2599A>C	ENSP00000262186.5:p.Met867Leu
ENST00000330883.8:c.1579A>C	ENSP00000328531.4:p.Met527Leu
NM_000238.3:c.2599A>C , LRG_288t1:c.2599A>C	NP_000229.1:p.Met867Leu
NM_172057.2:c.1579A>C , LRG_288t3:c.1579A>C	NP_742054.1:p.Met527Leu
XM_011516185.1:c.2299A>C	XP_011514487.1:p.Met767Leu
XM_011516186.1:c.2599A>C	XP_011514488.1:p.Met867Leu
XM_011516185.2:c.2299A>C	XP_011514487.1:p.Met767Leu
XM_011516186.3:c.2599A>C	XP_011514488.1:p.Met867Leu
XM_017012195.1:c.2449A>C	XP_016867684.1:p.Met817Leu
XM_017012196.1:c.2422A>C	XP_016867685.1:p.Met808Leu
NM_000238.4:c.2599A>C MANE Select	NP_000229.1:p.Met867Leu
NM_172057.3:c.1579A>C	NP_742054.1:p.Met527Leu