Canonical Allele Identifier: CA369855390

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150646130A>T (hg19) ; chr7:g.150949042A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949042A>T , CM000669.2:g.150949042A>T	GRCh38
NC_000007.13:g.150646130A>T , CM000669.1:g.150646130A>T	GRCh37
NC_000007.12:g.150277063A>T	NCBI36
NG_008916.1:g.33885T>A , LRG_288:g.33885T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3239T>A
ENST00000262186.10:c.2406T>A MANE Select	ENSP00000262186.5:p.Asn802Lys
ENST00000330883.9:c.1386T>A	ENSP00000328531.4:p.Asn462Lys
ENST00000262186.9:c.2406T>A	ENSP00000262186.5:p.Asn802Lys
ENST00000330883.8:c.1386T>A	ENSP00000328531.4:p.Asn462Lys
NM_000238.3:c.2406T>A , LRG_288t1:c.2406T>A	NP_000229.1:p.Asn802Lys
NM_172057.2:c.1386T>A , LRG_288t3:c.1386T>A	NP_742054.1:p.Asn462Lys
XM_011516185.1:c.2106T>A	XP_011514487.1:p.Asn702Lys
XM_011516186.1:c.2406T>A	XP_011514488.1:p.Asn802Lys
XM_011516185.2:c.2106T>A	XP_011514487.1:p.Asn702Lys
XM_011516186.3:c.2406T>A	XP_011514488.1:p.Asn802Lys
XM_017012195.1:c.2256T>A	XP_016867684.1:p.Asn752Lys
XM_017012196.1:c.2229T>A	XP_016867685.1:p.Asn743Lys
NM_000238.4:c.2406T>A MANE Select	NP_000229.1:p.Asn802Lys
NM_172057.3:c.1386T>A	NP_742054.1:p.Asn462Lys