Canonical Allele Identifier: CA253741

Gene: KCNE2

Linked Data

• ClinVar Variation Id: 6053
• ClinVar RCV Id: RCV000006425 ; RCV000058360 ; RCV000212497 ; RCV000407848 ; RCV001841228 ; RCV002399310
• dbSNP Id: rs74315447
• ExAC: 21:35742938 T / C
• gnomAD v2: 21-35742938-T-C
• gnomAD v3: 21-34370639-T-C
• gnomAD v4: 21-34370639-T-C
• MyVariant Identifiers: chr21:g.35742938T>C (hg19) ; chr21:g.34370639T>C (hg38)
• PubMed: PMID:10219239 ; PMID:10984545 ; PMID:14760488 ; PMID:19716085 ; PMID:20042375 ; PMID:22378279 ; PMID:22581653 ; PMID:24631775 ; PMID:25333069 ; PMID:25637381 ; PMID:26159999

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370639T>C , CM000683.2:g.34370639T>C	GRCh38
NC_000021.8:g.35742938T>C , CM000683.1:g.35742938T>C	GRCh37
NC_000021.7:g.34664808T>C	NCBI36
NG_008804.1:g.11616T>C , LRG_291:g.11616T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.161T>C MANE Select	ENSP00000290310.2:p.Met54Thr
ENST00000290310.3:c.161T>C	ENSP00000290310.2:p.Met54Thr
NM_172201.1:c.161T>C , LRG_291t1:c.161T>C	NP_751951.1:p.Met54Thr
XR_937683.1:n.682A>G
XR_937684.1:n.682A>G
XR_001755012.2:n.803A>G
XR_001755013.2:n.682A>G
XR_937683.2:n.682A>G
NM_172201.2:c.161T>C MANE Select	NP_751951.1:p.Met54Thr