Canonical Allele Identifier: CA301985
Gene: KCNE2 HGNC NCBI

Linked Data

ClinVar Variation Id: 190795
ClinVar RCV Id: RCV000170958
dbSNP Id: rs786205807
gnomAD v2: 21-35743139-T-A
gnomAD v3: 21-34370840-T-A
gnomAD v4: 21-34370840-T-A
MyVariant Identifiers: chr21:g.35743139T>A (hg19) chr21:g.34370840T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34370840T>A , CM000683.2:g.34370840T>A GRCh38
NC_000021.8:g.35743139T>A , CM000683.1:g.35743139T>A GRCh37
NC_000021.7:g.34665009T>A NCBI36
NG_008804.1:g.11817T>A , LRG_291:g.11817T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290310.4:c.362T>A MANE Select ENSP00000290310.2:p.Met121Lys
ENST00000290310.3:c.362T>A ENSP00000290310.2:p.Met121Lys
NM_172201.1:c.362T>A , LRG_291t1:c.362T>A NP_751951.1:p.Met121Lys
XR_937683.1:n.481A>T
XR_937684.1:n.481A>T
XR_001755012.2:n.602A>T
XR_001755013.2:n.481A>T
XR_937683.2:n.481A>T
NM_172201.2:c.362T>A MANE Select NP_751951.1:p.Met121Lys
Search 100 bp 5'
Search 100 bp 3'