Canonical Allele Identifier: CA410196688
Gene: KCNE2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.35742991G>C (hg19) chr21:g.34370692G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370692G>C , CM000683.2:g.34370692G>C GRCh38
NC_000021.8:g.35742991G>C , CM000683.1:g.35742991G>C GRCh37
NC_000021.7:g.34664861G>C NCBI36
NG_008804.1:g.11669G>C , LRG_291:g.11669G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000290310.4:c.214G>C MANE Select ENSP00000290310.2:p.Val72Leu
ENST00000290310.3:c.214G>C ENSP00000290310.2:p.Val72Leu
NM_172201.1:c.214G>C , LRG_291t1:c.214G>C NP_751951.1:p.Val72Leu
XR_937683.1:n.629C>G
XR_937684.1:n.629C>G
XR_001755012.2:n.750C>G
XR_001755013.2:n.629C>G
XR_937683.2:n.629C>G
NM_172201.2:c.214G>C MANE Select NP_751951.1:p.Val72Leu
Search 100 bp 5'
Search 100 bp 3'