Canonical Allele Identifier: CA329748

Gene: KCNE2

Linked Data

• ClinVar Variation Id: 67611
• ClinVar RCV Id: RCV000058364 ; RCV000464363
• dbSNP Id: rs199473364
• ExAC: 21:35742970 G / A
• gnomAD v2: 21-35742970-G-A
• gnomAD v3: 21-34370671-G-A
• gnomAD v4: 21-34370671-G-A
• MyVariant Identifiers: chr21:g.35742970G>A (hg19) ; chr21:g.34370671G>A (hg38)
• PubMed: PMID:12185453 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370671G>A , CM000683.2:g.34370671G>A	GRCh38
NC_000021.8:g.35742970G>A , CM000683.1:g.35742970G>A	GRCh37
NC_000021.7:g.34664840G>A	NCBI36
NG_008804.1:g.11648G>A , LRG_291:g.11648G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000290310.4:c.193G>A MANE Select	ENSP00000290310.2:p.Val65Met
ENST00000290310.3:c.193G>A	ENSP00000290310.2:p.Val65Met
NM_172201.1:c.193G>A , LRG_291t1:c.193G>A	NP_751951.1:p.Val65Met
XR_937683.1:n.650C>T
XR_937684.1:n.650C>T
XR_001755012.2:n.771C>T
XR_001755013.2:n.650C>T
XR_937683.2:n.650C>T
NM_172201.2:c.193G>A MANE Select	NP_751951.1:p.Val65Met