Canonical Allele Identifier: CA410196735

Gene: KCNE2

Linked Data

• MyVariant Identifiers: chr21:g.35743004G>T (hg19) ; chr21:g.34370705G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370705G>T , CM000683.2:g.34370705G>T	GRCh38
NC_000021.8:g.35743004G>T , CM000683.1:g.35743004G>T	GRCh37
NC_000021.7:g.34664874G>T	NCBI36
NG_008804.1:g.11682G>T , LRG_291:g.11682G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.227G>T MANE Select	ENSP00000290310.2:p.Arg76Ile
ENST00000290310.3:c.227G>T	ENSP00000290310.2:p.Arg76Ile
NM_172201.1:c.227G>T , LRG_291t1:c.227G>T	NP_751951.1:p.Arg76Ile
XR_937683.1:n.616C>A
XR_937684.1:n.616C>A
XR_001755012.2:n.737C>A
XR_001755013.2:n.616C>A
XR_937683.2:n.616C>A
NM_172201.2:c.227G>T MANE Select	NP_751951.1:p.Arg76Ile