Canonical Allele Identifier: CA017192
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 200270
ClinVar RCV Id: RCV001842819
dbSNP Id: rs754605400
ExAC: 7:150675012 TGGGCGGGCC / T
gnomAD v2: 7-150675012-TGGGCGGGCC-T
gnomAD v3: 7-150977924-TGGGCGGGCC-T
gnomAD v4: 7-150977924-TGGGCGGGCC-T
MyVariant Identifiers: chr7:g.150675013_150675021del (hg19) chr7:g.150977925_150977933del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150977934_150977942del , CM000669.2:g.150977934_150977942del GRCh38
NC_000007.13:g.150675022_150675030del , CM000669.1:g.150675022_150675030del GRCh37
NC_000007.12:g.150305955_150305963del NCBI36
NG_008916.1:g.4994_5002del , LRG_288:g.4994_5002del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.-20_-12del MANE Select ENSP00000262186.5:n.-20_-12del
ENST00000262186.9:c.-20_-12del ENSP00000262186.5:n.-20_-12del
ENST00000430723.4:c.-196-1_-189del
ENST00000532957.5:n.204_212del
NM_000238.3:c.-20_-12del , LRG_288t1:c.-20_-12del NP_000229.1:n.-20_-12del
NM_172056.2:c.-20_-12del , LRG_288t2:c.-20_-12del NP_742053.1:n.-20_-12del
XM_011516186.1:c.-20_-12del XP_011514488.1:n.-20_-12del
XM_011516186.3:c.-20_-12del XP_011514488.1:n.-20_-12del
NM_000238.4:c.-20_-12del MANE Select NP_000229.1:n.-20_-12del
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