Canonical Allele Identifier: CA10013397
Gene: KCNE2 HGNC NCBI

Linked Data

ClinVar Variation Id: 705145
ClinVar RCV Id: RCV000875438
dbSNP Id: rs372013275

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370553T>C , CM000683.2:g.34370553T>C GRCh38
NC_000021.8:g.35742852T>C , CM000683.1:g.35742852T>C GRCh37
NC_000021.7:g.34664722T>C NCBI36
NG_008804.1:g.11530T>C , LRG_291:g.11530T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000290310.4:c.75T>C MANE Select ENSP00000290310.2:p.Asn25=
ENST00000290310.3:c.75T>C ENSP00000290310.2:p.Asn25=
NM_172201.1:c.75T>C , LRG_291t1:c.75T>C NP_751951.1:p.Asn25=
NM_172201.2:c.75T>C MANE Select NP_751951.1:p.Asn25=