Canonical Allele Identifier: CA329750
Gene: KCNE2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67612
dbSNP Id: rs199473364

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370671G>C , CM000683.2:g.34370671G>C GRCh38
NC_000021.8:g.35742970G>C , CM000683.1:g.35742970G>C GRCh37
NC_000021.7:g.34664840G>C NCBI36
NG_008804.1:g.11648G>C , LRG_291:g.11648G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000290310.4:c.193G>C MANE Select ENSP00000290310.2:p.Val65Leu
ENST00000290310.3:c.193G>C ENSP00000290310.2:p.Val65Leu
NM_172201.1:c.193G>C , LRG_291t1:c.193G>C NP_751951.1:p.Val65Leu
NM_172201.2:c.193G>C MANE Select NP_751951.1:p.Val65Leu