Canonical Allele Identifier: CA410197280

Gene: KCNE2

Linked Data

• MyVariant Identifiers: chr21:g.35743145C>T (hg19) ; chr21:g.34370846C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370846C>T , CM000683.2:g.34370846C>T	GRCh38
NC_000021.8:g.35743145C>T , CM000683.1:g.35743145C>T	GRCh37
NC_000021.7:g.34665015C>T	NCBI36
NG_008804.1:g.11823C>T , LRG_291:g.11823C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000290310.4:c.368C>T MANE Select	ENSP00000290310.2:p.Pro123Leu
ENST00000290310.3:c.368C>T	ENSP00000290310.2:p.Pro123Leu
NM_172201.1:c.368C>T , LRG_291t1:c.368C>T	NP_751951.1:p.Pro123Leu
XR_937683.1:n.475G>A
XR_937684.1:n.475G>A
XR_001755012.2:n.596G>A
XR_001755013.2:n.475G>A
XR_937683.2:n.475G>A
NM_172201.2:c.368C>T MANE Select	NP_751951.1:p.Pro123Leu