Canonical Allele Identifier: CA10013408
Gene: KCNE2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2886091
ClinVar RCV Id: RCV003617140
dbSNP Id: rs779623946
ExAC: 21:35742918 C / T
gnomAD v2: 21-35742918-C-T
gnomAD v3: 21-34370619-C-T
gnomAD v4: 21-34370619-C-T
MyVariant Identifiers: chr21:g.35742918C>T (hg19) chr21:g.34370619C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370619C>T , CM000683.2:g.34370619C>T GRCh38
NC_000021.8:g.35742918C>T , CM000683.1:g.35742918C>T GRCh37
NC_000021.7:g.34664788C>T NCBI36
NG_008804.1:g.11596C>T , LRG_291:g.11596C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.141C>T MANE Select ENSP00000290310.2:p.Tyr47=
ENST00000290310.3:c.141C>T ENSP00000290310.2:p.Tyr47=
NM_172201.1:c.141C>T , LRG_291t1:c.141C>T NP_751951.1:p.Tyr47=
XR_937683.1:n.702G>A
XR_937684.1:n.702G>A
XR_001755012.2:n.823G>A
XR_001755013.2:n.702G>A
XR_937683.2:n.702G>A
NM_172201.2:c.141C>T MANE Select NP_751951.1:p.Tyr47=
Search 100 bp 5'
Search 100 bp 3'