Canonical Allele Identifier: CA410197237
Gene: KCNE2 HGNC NCBI

Linked Data

dbSNP Id: rs139202426
gnomAD v2: 21-35743134-C-G
gnomAD v4: 21-34370835-C-G
MyVariant Identifiers: chr21:g.35743134C>G (hg19) chr21:g.34370835C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370835C>G , CM000683.2:g.34370835C>G GRCh38
NC_000021.8:g.35743134C>G , CM000683.1:g.35743134C>G GRCh37
NC_000021.7:g.34665004C>G NCBI36
NG_008804.1:g.11812C>G , LRG_291:g.11812C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000290310.4:c.357C>G MANE Select ENSP00000290310.2:p.Phe119Leu
ENST00000290310.3:c.357C>G ENSP00000290310.2:p.Phe119Leu
NM_172201.1:c.357C>G , LRG_291t1:c.357C>G NP_751951.1:p.Phe119Leu
XR_937683.1:n.486G>C
XR_937684.1:n.486G>C
XR_001755012.2:n.607G>C
XR_001755013.2:n.486G>C
XR_937683.2:n.486G>C
NM_172201.2:c.357C>G MANE Select NP_751951.1:p.Phe119Leu
Search 100 bp 5'
Search 100 bp 3'