Canonical Allele Identifier: CA410196528
Gene: KCNE2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370646G>A , CM000683.2:g.34370646G>A GRCh38
NC_000021.8:g.35742945G>A , CM000683.1:g.35742945G>A GRCh37
NC_000021.7:g.34664815G>A NCBI36
NG_008804.1:g.11623G>A , LRG_291:g.11623G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.168G>A MANE Select ENSP00000290310.2:p.Met56Ile
ENST00000290310.3:c.168G>A ENSP00000290310.2:p.Met56Ile
NM_172201.1:c.168G>A , LRG_291t1:c.168G>A NP_751951.1:p.Met56Ile
XR_937683.1:n.675C>T
XR_937684.1:n.675C>T
XR_001755012.2:n.796C>T
XR_001755013.2:n.675C>T
XR_937683.2:n.675C>T
NM_172201.2:c.168G>A MANE Select NP_751951.1:p.Met56Ile