Canonical Allele Identifier: CA10013449
Gene: KCNE2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2911427
ClinVar RCV Id: RCV003615649
dbSNP Id: rs756561888
ExAC: 21:35743141 T / TC
gnomAD v2: 21-35743141-T-TC
gnomAD v4: 21-34370842-T-TC
MyVariant Identifiers: chr21:g.35743141_35743142insC (hg19) chr21:g.34370842_34370843insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370847dup , CM000683.2:g.34370847dup GRCh38
NC_000021.8:g.35743146dup , CM000683.1:g.35743146dup GRCh37
NC_000021.7:g.34665016dup NCBI36
NG_008804.1:g.11824dup , LRG_291:g.11824dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.369dup MANE Select ENSP00000290310.2:p.Ter124LeuextTer16
ENST00000290310.3:c.369dup ENSP00000290310.2:p.Ter124LeuextTer16
NM_172201.1:c.369dup , LRG_291t1:c.369dup NP_751951.1:p.Ter124LeuextTer16
XR_937683.1:n.478dup
XR_937684.1:n.478dup
XR_001755012.2:n.599dup
XR_001755013.2:n.478dup
XR_937683.2:n.478dup
NM_172201.2:c.369dup MANE Select NP_751951.1:p.Ter124LeuextTer16
Search 100 bp 5'
Search 100 bp 3'