Canonical Allele Identifier: CA512298950
Gene: KCNE2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.35743257C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370958C>T , CM000683.2:g.34370958C>T GRCh38
NC_000021.8:g.35743257C>T , CM000683.1:g.35743257C>T GRCh37
NC_000021.7:g.34665127C>T NCBI36
NG_008804.1:g.11935C>T , LRG_291:g.11935C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.*108C>T MANE Select ENSP00000290310.2:n.*108C>T
ENST00000290310.3:c.*108C>T ENSP00000290310.2:n.*108C>T
NM_172201.1:c.*108C>T , LRG_291t1:c.*108C>T NP_751951.1:n.*108C>T
XR_937683.1:n.363G>A
XR_937684.1:n.363G>A
XR_001755012.2:n.484G>A
XR_001755013.2:n.363G>A
XR_937683.2:n.363G>A
NM_172201.2:c.*108C>T MANE Select NP_751951.1:n.*108C>T