Canonical Allele Identifier: CA369866789
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150977910G>C , CM000669.2:g.150977910G>C GRCh38
NC_000007.13:g.150674998G>C , CM000669.1:g.150674998G>C GRCh37
NC_000007.12:g.150305931G>C NCBI36
NG_008916.1:g.5017C>G , LRG_288:g.5017C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.4C>G MANE Select ENSP00000262186.5:p.Pro2Ala
ENST00000262186.9:c.4C>G ENSP00000262186.5:p.Pro2Ala
ENST00000430723.4:c.-174C>G ENSP00000387657.4:n.-174C>G
ENST00000532957.5:n.227C>G
NM_000238.3:c.4C>G , LRG_288t1:c.4C>G NP_000229.1:p.Pro2Ala
NM_172056.2:c.4C>G , LRG_288t2:c.4C>G NP_742053.1:p.Pro2Ala
XM_011516186.1:c.4C>G XP_011514488.1:p.Pro2Ala
XM_011516186.3:c.4C>G XP_011514488.1:p.Pro2Ala
NM_000238.4:c.4C>G MANE Select NP_000229.1:p.Pro2Ala