Canonical Allele Identifier: CA410196203

Gene: KCNE2

Linked Data

• gnomAD v4: 21-34370544-T-A
• MyVariant Identifiers: chr21:g.35742843T>A (hg19) ; chr21:g.34370544T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370544T>A , CM000683.2:g.34370544T>A	GRCh38
NC_000021.8:g.35742843T>A , CM000683.1:g.35742843T>A	GRCh37
NC_000021.7:g.34664713T>A	NCBI36
NG_008804.1:g.11521T>A , LRG_291:g.11521T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.66T>A MANE Select	ENSP00000290310.2:p.Tyr22Ter
ENST00000290310.3:c.66T>A	ENSP00000290310.2:p.Tyr22Ter
NM_172201.1:c.66T>A , LRG_291t1:c.66T>A	NP_751951.1:p.Tyr22Ter
XR_937683.1:n.777A>T
XR_937684.1:n.777A>T
XR_001755012.2:n.898A>T
XR_001755013.2:n.777A>T
XR_937683.2:n.777A>T
NM_172201.2:c.66T>A MANE Select	NP_751951.1:p.Tyr22Ter