Canonical Allele Identifier: CA410196167

Gene: KCNE2

Linked Data

• MyVariant Identifiers: chr21:g.35742827G>T (hg19) ; chr21:g.34370528G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370528G>T , CM000683.2:g.34370528G>T	GRCh38
NC_000021.8:g.35742827G>T , CM000683.1:g.35742827G>T	GRCh37
NC_000021.7:g.34664697G>T	NCBI36
NG_008804.1:g.11505G>T , LRG_291:g.11505G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.50G>T MANE Select	ENSP00000290310.2:p.Arg17Met
ENST00000290310.3:c.50G>T	ENSP00000290310.2:p.Arg17Met
NM_172201.1:c.50G>T , LRG_291t1:c.50G>T	NP_751951.1:p.Arg17Met
XR_937683.1:n.793C>A
XR_937684.1:n.793C>A
XR_001755012.2:n.914C>A
XR_001755013.2:n.793C>A
XR_937683.2:n.793C>A
NM_172201.2:c.50G>T MANE Select	NP_751951.1:p.Arg17Met