Canonical Allele Identifier: CA369863364

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150655519A>G (hg19) ; chr7:g.150958431A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958431A>G , CM000669.2:g.150958431A>G	GRCh38
NC_000007.13:g.150655519A>G , CM000669.1:g.150655519A>G	GRCh37
NC_000007.12:g.150286452A>G	NCBI36
NG_008916.1:g.24496T>C , LRG_288:g.24496T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1377T>C
ENST00000262186.10:c.544T>C MANE Select	ENSP00000262186.5:p.Ser182Pro
ENST00000262186.9:c.544T>C	ENSP00000262186.5:p.Ser182Pro
ENST00000430723.4:c.235-39T>C	ENSP00000387657.4:n.235-39T>C
ENST00000532957.5:n.767T>C
NM_000238.3:c.544T>C , LRG_288t1:c.544T>C	NP_000229.1:p.Ser182Pro
NM_172056.2:c.544T>C , LRG_288t2:c.544T>C	NP_742053.1:p.Ser182Pro
XM_011516185.1:c.244T>C	XP_011514487.1:p.Ser82Pro
XM_011516186.1:c.544T>C	XP_011514488.1:p.Ser182Pro
XM_011516185.2:c.244T>C	XP_011514487.1:p.Ser82Pro
XM_011516186.3:c.544T>C	XP_011514488.1:p.Ser182Pro
XM_017012195.1:c.394T>C	XP_016867684.1:p.Ser132Pro
XM_017012196.1:c.367T>C	XP_016867685.1:p.Ser123Pro
NM_000238.4:c.544T>C MANE Select	NP_000229.1:p.Ser182Pro