Canonical Allele Identifier: CA410196370

Gene: KCNE2

Linked Data

• MyVariant Identifiers: chr21:g.35742905C>A (hg19) ; chr21:g.34370606C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370606C>A , CM000683.2:g.34370606C>A	GRCh38
NC_000021.8:g.35742905C>A , CM000683.1:g.35742905C>A	GRCh37
NC_000021.7:g.34664775C>A	NCBI36
NG_008804.1:g.11583C>A , LRG_291:g.11583C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.128C>A MANE Select	ENSP00000290310.2:p.Ala43Asp
ENST00000290310.3:c.128C>A	ENSP00000290310.2:p.Ala43Asp
NM_172201.1:c.128C>A , LRG_291t1:c.128C>A	NP_751951.1:p.Ala43Asp
XR_937683.1:n.715G>T
XR_937684.1:n.715G>T
XR_001755012.2:n.836G>T
XR_001755013.2:n.715G>T
XR_937683.2:n.715G>T
NM_172201.2:c.128C>A MANE Select	NP_751951.1:p.Ala43Asp