Canonical Allele Identifier: CA320365696
Gene: KCNE2 HGNC NCBI

Linked Data

dbSNP Id: rs929705305
MyVariant Identifiers: chr21:g.35742647G>C (hg19) chr21:g.34370348G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370348G>C , CM000683.2:g.34370348G>C GRCh38
NC_000021.8:g.35742647G>C , CM000683.1:g.35742647G>C GRCh37
NC_000021.7:g.34664517G>C NCBI36
NG_008804.1:g.11325G>C , LRG_291:g.11325G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000290310.4:c.-12-119G>C MANE Select ENSP00000290310.2:n.-12-119G>C
ENST00000290310.3:c.-12-119G>C ENSP00000290310.2:n.-12-119G>C
NM_172201.1:c.-12-119G>C , LRG_291t1:c.-12-119G>C NP_751951.1:n.-12-119G>C
XR_937683.1:n.886+87C>G
XR_937684.1:n.886+87C>G
XR_001755012.2:n.1094C>G
XR_001755013.2:n.973C>G
XR_937683.2:n.886+87C>G
NM_172201.2:c.-12-119G>C MANE Select NP_751951.1:n.-12-119G>C
Search 100 bp 5'
Search 100 bp 3'