Canonical Allele Identifier: CA10013405
Gene: KCNE2 HGNC NCBI

Linked Data

dbSNP Id: rs752190819
ExAC: 21:35742896 A / G
gnomAD v2: 21-35742896-A-G
gnomAD v4: 21-34370597-A-G
MyVariant Identifiers: chr21:g.35742896A>G (hg19) chr21:g.34370597A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370597A>G , CM000683.2:g.34370597A>G GRCh38
NC_000021.8:g.35742896A>G , CM000683.1:g.35742896A>G GRCh37
NC_000021.7:g.34664766A>G NCBI36
NG_008804.1:g.11574A>G , LRG_291:g.11574A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000290310.4:c.119A>G MANE Select ENSP00000290310.2:p.Lys40Arg
ENST00000290310.3:c.119A>G ENSP00000290310.2:p.Lys40Arg
NM_172201.1:c.119A>G , LRG_291t1:c.119A>G NP_751951.1:p.Lys40Arg
XR_937683.1:n.724T>C
XR_937684.1:n.724T>C
XR_001755012.2:n.845T>C
XR_001755013.2:n.724T>C
XR_937683.2:n.724T>C
NM_172201.2:c.119A>G MANE Select NP_751951.1:p.Lys40Arg
Search 100 bp 5'
Search 100 bp 3'