Canonical Allele Identifier: CA14879226

Gene: KCNE2

Linked Data

• ClinVar Variation Id: 1242701
• ClinVar RCV Id: RCV001641505
• dbSNP Id: rs9305548
• gnomAD v2: 21-35742722-C-T
• gnomAD v3: 21-34370423-C-T
• gnomAD v4: 21-34370423-C-T
• MyVariant Identifiers: chr21:g.35742722C>T (hg19) ; chr21:g.34370423C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370423C>T , CM000683.2:g.34370423C>T	GRCh38
NC_000021.8:g.35742722C>T , CM000683.1:g.35742722C>T	GRCh37
NC_000021.7:g.34664592C>T	NCBI36
NG_008804.1:g.11400C>T , LRG_291:g.11400C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000290310.4:c.-12-44C>T MANE Select	ENSP00000290310.2:n.-12-44C>T
ENST00000290310.3:c.-12-44C>T	ENSP00000290310.2:n.-12-44C>T
NM_172201.1:c.-12-44C>T , LRG_291t1:c.-12-44C>T	NP_751951.1:n.-12-44C>T
XR_937683.1:n.886+12G>A
XR_937684.1:n.886+12G>A
XR_001755012.2:n.1019G>A
XR_001755013.2:n.898G>A
XR_937683.2:n.886+12G>A
NM_172201.2:c.-12-44C>T MANE Select	NP_751951.1:n.-12-44C>T