Canonical Allele Identifier: CA369862968

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150655411T>G (hg19) ; chr7:g.150958323T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958323T>G , CM000669.2:g.150958323T>G	GRCh38
NC_000007.13:g.150655411T>G , CM000669.1:g.150655411T>G	GRCh37
NC_000007.12:g.150286344T>G	NCBI36
NG_008916.1:g.24604A>C , LRG_288:g.24604A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1485A>C
ENST00000262186.10:c.652A>C MANE Select	ENSP00000262186.5:p.Met218Leu
ENST00000262186.9:c.652A>C	ENSP00000262186.5:p.Met218Leu
ENST00000430723.4:c.304A>C	ENSP00000387657.4:p.Met102Leu
ENST00000532957.5:n.875A>C
NM_000238.3:c.652A>C , LRG_288t1:c.652A>C	NP_000229.1:p.Met218Leu
NM_172056.2:c.652A>C , LRG_288t2:c.652A>C	NP_742053.1:p.Met218Leu
XM_011516185.1:c.352A>C	XP_011514487.1:p.Met118Leu
XM_011516186.1:c.652A>C	XP_011514488.1:p.Met218Leu
XM_011516185.2:c.352A>C	XP_011514487.1:p.Met118Leu
XM_011516186.3:c.652A>C	XP_011514488.1:p.Met218Leu
XM_017012195.1:c.502A>C	XP_016867684.1:p.Met168Leu
XM_017012196.1:c.475A>C	XP_016867685.1:p.Met159Leu
NM_000238.4:c.652A>C MANE Select	NP_000229.1:p.Met218Leu