Canonical Allele Identifier: CA320365724

Gene: KCNE2

Linked Data

• ClinVar Variation Id: 1798483
• ClinVar RCV Id: RCV002442297 ; RCV003102952
• dbSNP Id: rs961832580
• gnomAD v2: 21-35743075-A-C
• gnomAD v3: 21-34370776-A-C
• gnomAD v4: 21-34370776-A-C
• MyVariant Identifiers: chr21:g.35743075A>C (hg19) ; chr21:g.34370776A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370776A>C , CM000683.2:g.34370776A>C	GRCh38
NC_000021.8:g.35743075A>C , CM000683.1:g.35743075A>C	GRCh37
NC_000021.7:g.34664945A>C	NCBI36
NG_008804.1:g.11753A>C , LRG_291:g.11753A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.298A>C MANE Select	ENSP00000290310.2:p.Ile100Leu
ENST00000290310.3:c.298A>C	ENSP00000290310.2:p.Ile100Leu
NM_172201.1:c.298A>C , LRG_291t1:c.298A>C	NP_751951.1:p.Ile100Leu
XR_937683.1:n.545T>G
XR_937684.1:n.545T>G
XR_001755012.2:n.666T>G
XR_001755013.2:n.545T>G
XR_937683.2:n.545T>G
NM_172201.2:c.298A>C MANE Select	NP_751951.1:p.Ile100Leu