Canonical Allele Identifier: CA320365710

Gene: KCNE2

Linked Data

• ClinVar Variation Id: 659161
• ClinVar RCV Id: RCV000816121 ; RCV002487797
• dbSNP Id: rs867658122
• gnomAD v3: 21-34370480-T-C
• gnomAD v4: 21-34370480-T-C
• MyVariant Identifiers: chr21:g.35742779T>C (hg19) ; chr21:g.34370480T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370480T>C , CM000683.2:g.34370480T>C	GRCh38
NC_000021.8:g.35742779T>C , CM000683.1:g.35742779T>C	GRCh37
NC_000021.7:g.34664649T>C	NCBI36
NG_008804.1:g.11457T>C , LRG_291:g.11457T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000290310.4:c.2T>C MANE Select	ENSP00000290310.2:p.Met1Thr
ENST00000290310.3:c.2T>C	ENSP00000290310.2:p.Met1Thr
NM_172201.1:c.2T>C , LRG_291t1:c.2T>C	NP_751951.1:p.Met1Thr
XR_937683.1:n.841A>G
XR_937684.1:n.841A>G
XR_001755012.2:n.962A>G
XR_001755013.2:n.841A>G
XR_937683.2:n.841A>G
NM_172201.2:c.2T>C MANE Select	NP_751951.1:p.Met1Thr