Canonical Allele Identifier: CA512298969
Gene: KCNE2 HGNC NCBI

Linked Data

gnomAD v4: 21-34370965-T-C
MyVariant Identifiers: chr21:g.35743264T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370965T>C , CM000683.2:g.34370965T>C GRCh38
NC_000021.8:g.35743264T>C , CM000683.1:g.35743264T>C GRCh37
NC_000021.7:g.34665134T>C NCBI36
NG_008804.1:g.11942T>C , LRG_291:g.11942T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.*115T>C MANE Select ENSP00000290310.2:n.*115T>C
ENST00000290310.3:c.*115T>C ENSP00000290310.2:n.*115T>C
NM_172201.1:c.*115T>C , LRG_291t1:c.*115T>C NP_751951.1:n.*115T>C
XR_937683.1:n.356A>G
XR_937684.1:n.356A>G
XR_001755012.2:n.477A>G
XR_001755013.2:n.356A>G
XR_937683.2:n.356A>G
NM_172201.2:c.*115T>C MANE Select NP_751951.1:n.*115T>C
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