Canonical Allele Identifier: CA410196415
Gene: KCNE2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.35742919T>A (hg19) chr21:g.34370620T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370620T>A , CM000683.2:g.34370620T>A GRCh38
NC_000021.8:g.35742919T>A , CM000683.1:g.35742919T>A GRCh37
NC_000021.7:g.34664789T>A NCBI36
NG_008804.1:g.11597T>A , LRG_291:g.11597T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.142T>A MANE Select ENSP00000290310.2:p.Tyr48Asn
ENST00000290310.3:c.142T>A ENSP00000290310.2:p.Tyr48Asn
NM_172201.1:c.142T>A , LRG_291t1:c.142T>A NP_751951.1:p.Tyr48Asn
XR_937683.1:n.701A>T
XR_937684.1:n.701A>T
XR_001755012.2:n.822A>T
XR_001755013.2:n.701A>T
XR_937683.2:n.701A>T
NM_172201.2:c.142T>A MANE Select NP_751951.1:p.Tyr48Asn
Search 100 bp 5'
Search 100 bp 3'