Canonical Allele Identifier: CA410196154
Gene: KCNE2 HGNC NCBI

Linked Data

dbSNP Id: rs1323358344
gnomAD v2: 21-35742820-T-C
gnomAD v3: 21-34370521-T-C
gnomAD v4: 21-34370521-T-C
MyVariant Identifiers: chr21:g.35742820T>C (hg19) chr21:g.34370521T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370521T>C , CM000683.2:g.34370521T>C GRCh38
NC_000021.8:g.35742820T>C , CM000683.1:g.35742820T>C GRCh37
NC_000021.7:g.34664690T>C NCBI36
NG_008804.1:g.11498T>C , LRG_291:g.11498T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000290310.4:c.43T>C MANE Select ENSP00000290310.2:p.Phe15Leu
ENST00000290310.3:c.43T>C ENSP00000290310.2:p.Phe15Leu
NM_172201.1:c.43T>C , LRG_291t1:c.43T>C NP_751951.1:p.Phe15Leu
XR_937683.1:n.800A>G
XR_937684.1:n.800A>G
XR_001755012.2:n.921A>G
XR_001755013.2:n.800A>G
XR_937683.2:n.800A>G
NM_172201.2:c.43T>C MANE Select NP_751951.1:p.Phe15Leu
Search 100 bp 5'
Search 100 bp 3'