Canonical Allele Identifier: CA2579062532
Gene: KCNH2 HGNC NCBI

Linked Data

dbSNP Id: rs2116934992

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947975T>C , CM000669.2:g.150947975T>C GRCh38
NC_000007.13:g.150645063T>C , CM000669.1:g.150645063T>C GRCh37
NC_000007.12:g.150275996T>C NCBI36
NG_008916.1:g.34952A>G , LRG_288:g.34952A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3526-97A>G
ENST00000262186.10:c.2693-97A>G MANE Select ENSP00000262186.5:n.2693-97A>G
ENST00000330883.9:c.1673-97A>G ENSP00000328531.4:n.1673-97A>G
ENST00000262186.9:c.2693-97A>G ENSP00000262186.5:n.2693-97A>G
ENST00000330883.8:c.1673-97A>G ENSP00000328531.4:n.1673-97A>G
NM_000238.3:c.2693-97A>G , LRG_288t1:c.2693-97A>G NP_000229.1:n.2693-97A>G
NM_172057.2:c.1673-97A>G , LRG_288t3:c.1673-97A>G NP_742054.1:n.1673-97A>G
XM_011516185.1:c.2393-97A>G XP_011514487.1:n.2393-97A>G
XM_011516186.1:c.2693-284A>G XP_011514488.1:n.2693-284A>G
XM_011516185.2:c.2393-97A>G XP_011514487.1:n.2393-97A>G
XM_011516186.3:c.2693-284A>G XP_011514488.1:n.2693-284A>G
XM_017012195.1:c.2543-97A>G XP_016867684.1:n.2543-97A>G
XM_017012196.1:c.2516-97A>G XP_016867685.1:n.2516-97A>G
NM_000238.4:c.2693-97A>G MANE Select NP_000229.1:n.2693-97A>G
NM_172057.3:c.1673-97A>G NP_742054.1:n.1673-97A>G