Canonical Allele Identifier: CA410197272
Gene: KCNE2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1008832
ClinVar RCV Id: RCV001306232
dbSNP Id: rs1979560748
MyVariant Identifiers: chr21:g.35743142C>T (hg19) chr21:g.34370843C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370843C>T , CM000683.2:g.34370843C>T GRCh38
NC_000021.8:g.35743142C>T , CM000683.1:g.35743142C>T GRCh37
NC_000021.7:g.34665012C>T NCBI36
NG_008804.1:g.11820C>T , LRG_291:g.11820C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.365C>T MANE Select ENSP00000290310.2:p.Ser122Phe
ENST00000290310.3:c.365C>T ENSP00000290310.2:p.Ser122Phe
NM_172201.1:c.365C>T , LRG_291t1:c.365C>T NP_751951.1:p.Ser122Phe
XR_937683.1:n.478G>A
XR_937684.1:n.478G>A
XR_001755012.2:n.599G>A
XR_001755013.2:n.478G>A
XR_937683.2:n.478G>A
NM_172201.2:c.365C>T MANE Select NP_751951.1:p.Ser122Phe
Search 100 bp 5'
Search 100 bp 3'