Canonical Allele Identifier: CA369852698

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150644483T>G (hg19) ; chr7:g.150947395T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947395T>G , CM000669.2:g.150947395T>G	GRCh38
NC_000007.13:g.150644483T>G , CM000669.1:g.150644483T>G	GRCh37
NC_000007.12:g.150275416T>G	NCBI36
NG_008916.1:g.35532A>C , LRG_288:g.35532A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3918A>C
ENST00000262186.10:c.3085A>C MANE Select	ENSP00000262186.5:p.Ser1029Arg
ENST00000330883.9:c.2065A>C	ENSP00000328531.4:p.Ser689Arg
ENST00000262186.9:c.3085A>C	ENSP00000262186.5:p.Ser1029Arg
ENST00000330883.8:c.2065A>C	ENSP00000328531.4:p.Ser689Arg
NM_000238.3:c.3085A>C , LRG_288t1:c.3085A>C	NP_000229.1:p.Ser1029Arg
NM_172057.2:c.2065A>C , LRG_288t3:c.2065A>C	NP_742054.1:p.Ser689Arg
XM_011516185.1:c.2785A>C	XP_011514487.1:p.Ser929Arg
XM_011516185.2:c.2785A>C	XP_011514487.1:p.Ser929Arg
XM_017012195.1:c.2935A>C	XP_016867684.1:p.Ser979Arg
XM_017012196.1:c.2908A>C	XP_016867685.1:p.Ser970Arg
NM_000238.4:c.3085A>C MANE Select	NP_000229.1:p.Ser1029Arg
NM_172057.3:c.2065A>C	NP_742054.1:p.Ser689Arg