Canonical Allele Identifier: CA512345354
Gene: KCNE2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.35742972G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370673G>C , CM000683.2:g.34370673G>C GRCh38
NC_000021.8:g.35742972G>C , CM000683.1:g.35742972G>C GRCh37
NC_000021.7:g.34664842G>C NCBI36
NG_008804.1:g.11650G>C , LRG_291:g.11650G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000290310.4:c.195G>C MANE Select ENSP00000290310.2:p.Val65=
ENST00000290310.3:c.195G>C ENSP00000290310.2:p.Val65=
NM_172201.1:c.195G>C , LRG_291t1:c.195G>C NP_751951.1:p.Val65=
XR_937683.1:n.648C>G
XR_937684.1:n.648C>G
XR_001755012.2:n.769C>G
XR_001755013.2:n.648C>G
XR_937683.2:n.648C>G
NM_172201.2:c.195G>C MANE Select NP_751951.1:p.Val65=