Canonical Allele Identifier: CA458872362

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150655397C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958309C>G , CM000669.2:g.150958309C>G	GRCh38
NC_000007.13:g.150655397C>G , CM000669.1:g.150655397C>G	GRCh37
NC_000007.12:g.150286330C>G	NCBI36
NG_008916.1:g.24618G>C , LRG_288:g.24618G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1499G>C
ENST00000262186.10:c.666G>C MANE Select	ENSP00000262186.5:p.Val222=
ENST00000262186.9:c.666G>C	ENSP00000262186.5:p.Val222=
ENST00000430723.4:c.318G>C	ENSP00000387657.4:p.Val106=
ENST00000532957.5:n.889G>C
NM_000238.3:c.666G>C , LRG_288t1:c.666G>C	NP_000229.1:p.Val222=
NM_172056.2:c.666G>C , LRG_288t2:c.666G>C	NP_742053.1:p.Val222=
XM_011516185.1:c.366G>C	XP_011514487.1:p.Val122=
XM_011516186.1:c.666G>C	XP_011514488.1:p.Val222=
XM_011516185.2:c.366G>C	XP_011514487.1:p.Val122=
XM_011516186.3:c.666G>C	XP_011514488.1:p.Val222=
XM_017012195.1:c.516G>C	XP_016867684.1:p.Val172=
XM_017012196.1:c.489G>C	XP_016867685.1:p.Val163=
NM_000238.4:c.666G>C MANE Select	NP_000229.1:p.Val222=