Canonical Allele Identifier: CA10013430
Gene: KCNE2 HGNC NCBI

Linked Data

dbSNP Id: rs770895197
ExAC: 21:35743013 A / C
gnomAD v2: 21-35743013-A-C
gnomAD v4: 21-34370714-A-C
MyVariant Identifiers: chr21:g.35743013A>C (hg19) chr21:g.34370714A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370714A>C , CM000683.2:g.34370714A>C GRCh38
NC_000021.8:g.35743013A>C , CM000683.1:g.35743013A>C GRCh37
NC_000021.7:g.34664883A>C NCBI36
NG_008804.1:g.11691A>C , LRG_291:g.11691A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.236A>C MANE Select ENSP00000290310.2:p.His79Pro
ENST00000290310.3:c.236A>C ENSP00000290310.2:p.His79Pro
NM_172201.1:c.236A>C , LRG_291t1:c.236A>C NP_751951.1:p.His79Pro
XR_937683.1:n.607T>G
XR_937684.1:n.607T>G
XR_001755012.2:n.728T>G
XR_001755013.2:n.607T>G
XR_937683.2:n.607T>G
NM_172201.2:c.236A>C MANE Select NP_751951.1:p.His79Pro
Search 100 bp 5'
Search 100 bp 3'