Canonical Allele Identifier: CA2387099333
Gene: KCNE2 HGNC NCBI

Linked Data

dbSNP Id: rs1979540352

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370646_34370648del , CM000683.2:g.34370646_34370648del GRCh38
NC_000021.8:g.35742945_35742947del , CM000683.1:g.35742945_35742947del GRCh37
NC_000021.7:g.34664815_34664817del NCBI36
NG_008804.1:g.11623_11625del , LRG_291:g.11623_11625del

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.168_170del MANE Select ENSP00000290310.2:p.Met56del
ENST00000290310.3:c.168_170del ENSP00000290310.2:p.Met56del
NM_172201.1:c.168_170del , LRG_291t1:c.168_170del NP_751951.1:p.Met56del
XR_937683.1:n.677_679del
XR_937684.1:n.677_679del
XR_001755012.2:n.798_800del
XR_001755013.2:n.677_679del
XR_937683.2:n.677_679del
NM_172201.2:c.168_170del MANE Select NP_751951.1:p.Met56del