Canonical Allele Identifier: CA512298668
Gene: KCNE2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.35743206G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370907G>C , CM000683.2:g.34370907G>C GRCh38
NC_000021.8:g.35743206G>C , CM000683.1:g.35743206G>C GRCh37
NC_000021.7:g.34665076G>C NCBI36
NG_008804.1:g.11884G>C , LRG_291:g.11884G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290310.4:c.*57G>C MANE Select ENSP00000290310.2:n.*57G>C
ENST00000290310.3:c.*57G>C ENSP00000290310.2:n.*57G>C
NM_172201.1:c.*57G>C , LRG_291t1:c.*57G>C NP_751951.1:n.*57G>C
XR_937683.1:n.414C>G
XR_937684.1:n.414C>G
XR_001755012.2:n.535C>G
XR_001755013.2:n.414C>G
XR_937683.2:n.414C>G
NM_172201.2:c.*57G>C MANE Select NP_751951.1:n.*57G>C