Canonical Allele Identifier: CA410196367

Gene: KCNE2

Linked Data

• MyVariant Identifiers: chr21:g.35742904G>A (hg19) ; chr21:g.34370605G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370605G>A , CM000683.2:g.34370605G>A	GRCh38
NC_000021.8:g.35742904G>A , CM000683.1:g.35742904G>A	GRCh37
NC_000021.7:g.34664774G>A	NCBI36
NG_008804.1:g.11582G>A , LRG_291:g.11582G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.127G>A MANE Select	ENSP00000290310.2:p.Ala43Thr
ENST00000290310.3:c.127G>A	ENSP00000290310.2:p.Ala43Thr
NM_172201.1:c.127G>A , LRG_291t1:c.127G>A	NP_751951.1:p.Ala43Thr
XR_937683.1:n.716C>T
XR_937684.1:n.716C>T
XR_001755012.2:n.837C>T
XR_001755013.2:n.716C>T
XR_937683.2:n.716C>T
NM_172201.2:c.127G>A MANE Select	NP_751951.1:p.Ala43Thr