Canonical Allele Identifier: CA10013414
Gene: KCNE2 HGNC NCBI

Linked Data

ClinVar Variation Id: 339718
dbSNP Id: rs143767851

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370631G>T , CM000683.2:g.34370631G>T GRCh38
NC_000021.8:g.35742930G>T , CM000683.1:g.35742930G>T GRCh37
NC_000021.7:g.34664800G>T NCBI36
NG_008804.1:g.11608G>T , LRG_291:g.11608G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.153G>T MANE Select ENSP00000290310.2:p.Leu51=
ENST00000290310.3:c.153G>T ENSP00000290310.2:p.Leu51=
NM_172201.1:c.153G>T , LRG_291t1:c.153G>T NP_751951.1:p.Leu51=
XR_937683.1:n.690C>A
XR_937684.1:n.690C>A
XR_001755012.2:n.811C>A
XR_001755013.2:n.690C>A
XR_937683.2:n.690C>A
NM_172201.2:c.153G>T MANE Select NP_751951.1:p.Leu51=