Canonical Allele Identifier: CA211462

Gene: KCNE2

Linked Data

• ClinVar Variation Id: 67614
• ClinVar RCV Id: RCV000170957 ; RCV000058367 ; RCV000148522 ; RCV001246221 ; RCV000781484 ; RCV002477193 ; RCV002444517
• dbSNP Id: rs141423405
• ExAC: 21:35743006 C / T
• gnomAD v2: 21-35743006-C-T
• gnomAD v3: 21-34370707-C-T
• gnomAD v4: 21-34370707-C-T
• COSMIC: COSM1030436
• MyVariant Identifiers: chr21:g.35743006C>T (hg19) ; chr21:g.34370707C>T (hg38)
• PubMed: PMID:16922724 ; PMID:17275752 ; PMID:22378279 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370707C>T , CM000683.2:g.34370707C>T	GRCh38
NC_000021.8:g.35743006C>T , CM000683.1:g.35743006C>T	GRCh37
NC_000021.7:g.34664876C>T	NCBI36
NG_008804.1:g.11684C>T , LRG_291:g.11684C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.229C>T MANE Select	ENSP00000290310.2:p.Arg77Trp
ENST00000290310.3:c.229C>T	ENSP00000290310.2:p.Arg77Trp
NM_172201.1:c.229C>T , LRG_291t1:c.229C>T	NP_751951.1:p.Arg77Trp
XR_937683.1:n.614G>A
XR_937684.1:n.614G>A
XR_001755012.2:n.735G>A
XR_001755013.2:n.614G>A
XR_937683.2:n.614G>A
NM_172201.2:c.229C>T MANE Select	NP_751951.1:p.Arg77Trp