Canonical Allele Identifier: CA369853877
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948521G>C , CM000669.2:g.150948521G>C GRCh38
NC_000007.13:g.150645609G>C , CM000669.1:g.150645609G>C GRCh37
NC_000007.12:g.150276542G>C NCBI36
NG_008916.1:g.34406C>G , LRG_288:g.34406C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3448C>G
ENST00000262186.10:c.2615C>G MANE Select ENSP00000262186.5:p.Pro872Arg
ENST00000330883.9:c.1595C>G ENSP00000328531.4:p.Pro532Arg
ENST00000262186.9:c.2615C>G ENSP00000262186.5:p.Pro872Arg
ENST00000330883.8:c.1595C>G ENSP00000328531.4:p.Pro532Arg
NM_000238.3:c.2615C>G , LRG_288t1:c.2615C>G NP_000229.1:p.Pro872Arg
NM_172057.2:c.1595C>G , LRG_288t3:c.1595C>G NP_742054.1:p.Pro532Arg
XM_011516185.1:c.2315C>G XP_011514487.1:p.Pro772Arg
XM_011516186.1:c.2615C>G XP_011514488.1:p.Pro872Arg
XM_011516185.2:c.2315C>G XP_011514487.1:p.Pro772Arg
XM_011516186.3:c.2615C>G XP_011514488.1:p.Pro872Arg
XM_017012195.1:c.2465C>G XP_016867684.1:p.Pro822Arg
XM_017012196.1:c.2438C>G XP_016867685.1:p.Pro813Arg
NM_000238.4:c.2615C>G MANE Select NP_000229.1:p.Pro872Arg
NM_172057.3:c.1595C>G NP_742054.1:p.Pro532Arg