Canonical Allele Identifier: CA410196463

Gene: KCNE2

Linked Data

• MyVariant Identifiers: chr21:g.35742928C>A (hg19) ; chr21:g.34370629C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370629C>A , CM000683.2:g.34370629C>A	GRCh38
NC_000021.8:g.35742928C>A , CM000683.1:g.35742928C>A	GRCh37
NC_000021.7:g.34664798C>A	NCBI36
NG_008804.1:g.11606C>A , LRG_291:g.11606C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.151C>A MANE Select	ENSP00000290310.2:p.Leu51Met
ENST00000290310.3:c.151C>A	ENSP00000290310.2:p.Leu51Met
NM_172201.1:c.151C>A , LRG_291t1:c.151C>A	NP_751951.1:p.Leu51Met
XR_937683.1:n.692G>T
XR_937684.1:n.692G>T
XR_001755012.2:n.813G>T
XR_001755013.2:n.692G>T
XR_937683.2:n.692G>T
NM_172201.2:c.151C>A MANE Select	NP_751951.1:p.Leu51Met