Canonical Allele Identifier: CA10652877

Gene: KCNE2

Linked Data

• ClinVar Variation Id: 339713
• ClinVar RCV Id: RCV000289323 ; RCV000344421 ; RCV000391596 ; RCV002504145
• dbSNP Id: rs188625398
• gnomAD v2: 21-35736342-C-T
• gnomAD v3: 21-34364043-C-T
• gnomAD v4: 21-34364043-C-T
• MyVariant Identifiers: chr21:g.35736342C>T (hg19) ; chr21:g.34364043C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34364043C>T , CM000683.2:g.34364043C>T	GRCh38
NC_000021.8:g.35736342C>T , CM000683.1:g.35736342C>T	GRCh37
NC_000021.7:g.34658212C>T	NCBI36
NG_008804.1:g.5020C>T , LRG_291:g.5020C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.-121C>T MANE Select	ENSP00000290310.2:n.-121C>T
ENST00000290310.3:c.-121C>T	ENSP00000290310.2:n.-121C>T
NM_172201.1:c.-121C>T , LRG_291t1:c.-121C>T	NP_751951.1:n.-121C>T
XR_937683.1:n.1046-1967G>A
XR_937684.1:n.1046-1967G>A
XR_001755012.2:n.1672-1967G>A
XR_001755013.2:n.1551-1967G>A
XR_937683.2:n.1046-1967G>A
NM_172201.2:c.-121C>T MANE Select	NP_751951.1:n.-121C>T