Canonical Allele Identifier: CA369857790

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150648208G>T (hg19) ; chr7:g.150951120G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951120G>T , CM000669.2:g.150951120G>T	GRCh38
NC_000007.13:g.150648208G>T , CM000669.1:g.150648208G>T	GRCh37
NC_000007.12:g.150279141G>T	NCBI36
NG_008916.1:g.31807C>A , LRG_288:g.31807C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1244C>A
ENST00000683359.1:n.70C>A
ENST00000684241.1:n.2779C>A
ENST00000262186.10:c.1946C>A MANE Select	ENSP00000262186.5:p.Ser649Tyr
ENST00000330883.9:c.926C>A	ENSP00000328531.4:p.Ser309Tyr
ENST00000262186.9:c.1946C>A	ENSP00000262186.5:p.Ser649Tyr
ENST00000330883.8:c.926C>A	ENSP00000328531.4:p.Ser309Tyr
ENST00000430723.4:c.1598C>A	ENSP00000387657.4:p.Ser533Tyr
ENST00000461280.1:n.1233C>A
ENST00000473610.5:n.1578C>A
ENST00000532957.5:n.2169C>A
NM_000238.3:c.1946C>A , LRG_288t1:c.1946C>A	NP_000229.1:p.Ser649Tyr
NM_001204798.1:c.926C>A	NP_001191727.1:p.Ser309Tyr
NM_172056.2:c.1946C>A , LRG_288t2:c.1946C>A	NP_742053.1:p.Ser649Tyr
NM_172057.2:c.926C>A , LRG_288t3:c.926C>A	NP_742054.1:p.Ser309Tyr
XM_011516185.1:c.1646C>A	XP_011514487.1:p.Ser549Tyr
XM_011516186.1:c.1946C>A	XP_011514488.1:p.Ser649Tyr
XM_011516185.2:c.1646C>A	XP_011514487.1:p.Ser549Tyr
XM_011516186.3:c.1946C>A	XP_011514488.1:p.Ser649Tyr
XM_017012195.1:c.1796C>A	XP_016867684.1:p.Ser599Tyr
XM_017012196.1:c.1769C>A	XP_016867685.1:p.Ser590Tyr
NM_000238.4:c.1946C>A MANE Select	NP_000229.1:p.Ser649Tyr
NM_001204798.2:c.926C>A	NP_001191727.1:p.Ser309Tyr
NM_172057.3:c.926C>A	NP_742054.1:p.Ser309Tyr