Canonical Allele Identifier: CA835204287
Gene: KCNH2 HGNC NCBI

Linked Data

dbSNP Id: rs1366419125

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958581A>G , CM000669.2:g.150958581A>G GRCh38
NC_000007.13:g.150655669A>G , CM000669.1:g.150655669A>G GRCh37
NC_000007.12:g.150286602A>G NCBI36
NG_008916.1:g.24346T>C , LRG_288:g.24346T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1306-79T>C
ENST00000262186.10:c.473-79T>C MANE Select ENSP00000262186.5:n.473-79T>C
ENST00000262186.9:c.473-79T>C ENSP00000262186.5:n.473-79T>C
ENST00000430723.4:c.235-189T>C ENSP00000387657.4:n.235-189T>C
ENST00000532957.5:n.696-79T>C
NM_000238.3:c.473-79T>C , LRG_288t1:c.473-79T>C NP_000229.1:n.473-79T>C
NM_172056.2:c.473-79T>C , LRG_288t2:c.473-79T>C NP_742053.1:n.473-79T>C
XM_011516185.1:c.173-79T>C XP_011514487.1:n.173-79T>C
XM_011516186.1:c.473-79T>C XP_011514488.1:n.473-79T>C
XM_011516185.2:c.173-79T>C XP_011514487.1:n.173-79T>C
XM_011516186.3:c.473-79T>C XP_011514488.1:n.473-79T>C
XM_017012195.1:c.323-79T>C XP_016867684.1:n.323-79T>C
XM_017012196.1:c.296-79T>C XP_016867685.1:n.296-79T>C
NM_000238.4:c.473-79T>C MANE Select NP_000229.1:n.473-79T>C