Canonical Allele Identifier: CA2580077774

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1935388
• ClinVar RCV Id: RCV002623127

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948424_150948447dup , CM000669.2:g.150948424_150948447dup	GRCh38
NC_000007.13:g.150645512_150645535dup , CM000669.1:g.150645512_150645535dup	GRCh37
NC_000007.12:g.150276445_150276468dup	NCBI36
NG_008916.1:g.34485_34508dup , LRG_288:g.34485_34508dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+2_3525+25dup
ENST00000262186.10:c.2692+2_2692+25dup
ENST00000330883.9:c.1672+2_1672+25dup
ENST00000262186.9:c.2692+2_2692+25dup
ENST00000330883.8:c.1672+2_1672+25dup
NM_000238.3:c.2692+2_2692+25dup , LRG_288t1:c.2692+2_2692+25dup
NM_172057.2:c.1672+2_1672+25dup , LRG_288t3:c.1672+2_1672+25dup
XM_011516185.1:c.2392+2_2392+25dup
XM_011516186.1:c.2692+2_2692+25dup
XM_011516185.2:c.2392+2_2392+25dup
XM_011516186.3:c.2692+2_2692+25dup
XM_017012195.1:c.2542+2_2542+25dup
XM_017012196.1:c.2515+2_2515+25dup
NM_000238.4:c.2692+2_2692+25dup
NM_172057.3:c.1672+2_1672+25dup