Canonical Allele Identifier: CA410196506
Gene: KCNE2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370640G>C , CM000683.2:g.34370640G>C GRCh38
NC_000021.8:g.35742939G>C , CM000683.1:g.35742939G>C GRCh37
NC_000021.7:g.34664809G>C NCBI36
NG_008804.1:g.11617G>C , LRG_291:g.11617G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.162G>C MANE Select ENSP00000290310.2:p.Met54Ile
ENST00000290310.3:c.162G>C ENSP00000290310.2:p.Met54Ile
NM_172201.1:c.162G>C , LRG_291t1:c.162G>C NP_751951.1:p.Met54Ile
XR_937683.1:n.681C>G
XR_937684.1:n.681C>G
XR_001755012.2:n.802C>G
XR_001755013.2:n.681C>G
XR_937683.2:n.681C>G
NM_172201.2:c.162G>C MANE Select NP_751951.1:p.Met54Ile