Canonical Allele Identifier: CA006003
Gene: KCNH2 HGNC NCBI

Linked Data

dbSNP Id: rs794728379

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951477A>T , CM000669.2:g.150951477A>T GRCh38
NC_000007.13:g.150648565A>T , CM000669.1:g.150648565A>T GRCh37
NC_000007.12:g.150279498A>T NCBI36
NG_008916.1:g.31450T>A , LRG_288:g.31450T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1214T>A
ENST00000683359.1:n.40T>A
ENST00000684241.1:n.2749T>A
ENST00000262186.10:c.1916T>A MANE Select ENSP00000262186.5:p.Ile639Asn
ENST00000330883.9:c.896T>A ENSP00000328531.4:p.Ile299Asn
ENST00000262186.9:c.1916T>A ENSP00000262186.5:p.Ile639Asn
ENST00000330883.8:c.896T>A ENSP00000328531.4:p.Ile299Asn
ENST00000430723.4:c.1568T>A ENSP00000387657.4:p.Ile523Asn
ENST00000461280.1:n.1203T>A
ENST00000473610.5:n.1221T>A
ENST00000532957.5:n.2139T>A
NM_000238.3:c.1916T>A , LRG_288t1:c.1916T>A NP_000229.1:p.Ile639Asn
NM_001204798.1:c.896T>A NP_001191727.1:p.Ile299Asn
NM_172056.2:c.1916T>A , LRG_288t2:c.1916T>A NP_742053.1:p.Ile639Asn
NM_172057.2:c.896T>A , LRG_288t3:c.896T>A NP_742054.1:p.Ile299Asn
XM_011516185.1:c.1616T>A XP_011514487.1:p.Ile539Asn
XM_011516186.1:c.1916T>A XP_011514488.1:p.Ile639Asn
XM_011516185.2:c.1616T>A XP_011514487.1:p.Ile539Asn
XM_011516186.3:c.1916T>A XP_011514488.1:p.Ile639Asn
XM_017012195.1:c.1766T>A XP_016867684.1:p.Ile589Asn
XM_017012196.1:c.1739T>A XP_016867685.1:p.Ile580Asn
NM_000238.4:c.1916T>A MANE Select NP_000229.1:p.Ile639Asn
NM_001204798.2:c.896T>A NP_001191727.1:p.Ile299Asn
NM_172057.3:c.896T>A NP_742054.1:p.Ile299Asn