Canonical Allele Identifier: CA10013396

Gene: KCNE2

Linked Data

• ClinVar Variation Id: 560697
• ClinVar RCV Id: RCV000678938 ; RCV002360705 ; RCV002485568 ; RCV003432724
• dbSNP Id: rs747045005
• ExAC: 21:35742844 A / T
• gnomAD v2: 21-35742844-A-T
• gnomAD v3: 21-34370545-A-T
• gnomAD v4: 21-34370545-A-T
• MyVariant Identifiers: chr21:g.35742844A>T (hg19) ; chr21:g.34370545A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370545A>T , CM000683.2:g.34370545A>T	GRCh38
NC_000021.8:g.35742844A>T , CM000683.1:g.35742844A>T	GRCh37
NC_000021.7:g.34664714A>T	NCBI36
NG_008804.1:g.11522A>T , LRG_291:g.11522A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.67A>T MANE Select	ENSP00000290310.2:p.Met23Leu
ENST00000290310.3:c.67A>T	ENSP00000290310.2:p.Met23Leu
NM_172201.1:c.67A>T , LRG_291t1:c.67A>T	NP_751951.1:p.Met23Leu
XR_937683.1:n.776T>A
XR_937684.1:n.776T>A
XR_001755012.2:n.897T>A
XR_001755013.2:n.776T>A
XR_937683.2:n.776T>A
NM_172201.2:c.67A>T MANE Select	NP_751951.1:p.Met23Leu