Canonical Allele Identifier: CA236156

Gene: KCNE2

Linked Data

• ClinVar Variation Id: 191164
• ClinVar RCV Id: RCV000171348 ; RCV001049236
• dbSNP Id: rs751931568
• ExAC: 21:35742986 G / A
• gnomAD v2: 21-35742986-G-A
• gnomAD v3: 21-34370687-G-A
• gnomAD v4: 21-34370687-G-A
• MyVariant Identifiers: chr21:g.35742986G>A (hg19) ; chr21:g.34370687G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370687G>A , CM000683.2:g.34370687G>A	GRCh38
NC_000021.8:g.35742986G>A , CM000683.1:g.35742986G>A	GRCh37
NC_000021.7:g.34664856G>A	NCBI36
NG_008804.1:g.11664G>A , LRG_291:g.11664G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.209G>A MANE Select	ENSP00000290310.2:p.Ser70Asn
ENST00000290310.3:c.209G>A	ENSP00000290310.2:p.Ser70Asn
NM_172201.1:c.209G>A , LRG_291t1:c.209G>A	NP_751951.1:p.Ser70Asn
XR_937683.1:n.634C>T
XR_937684.1:n.634C>T
XR_001755012.2:n.755C>T
XR_001755013.2:n.634C>T
XR_937683.2:n.634C>T
NM_172201.2:c.209G>A MANE Select	NP_751951.1:p.Ser70Asn