Canonical Allele Identifier: CA10013414

Gene: KCNE2

Linked Data

• ClinVar Variation Id: 339718
• ClinVar RCV Id: RCV000284906 ; RCV000348116 ; RCV000407861 ; RCV002402067
• dbSNP Id: rs143767851
• ExAC: 21:35742930 G / T
• gnomAD v2: 21-35742930-G-T
• gnomAD v3: 21-34370631-G-T
• gnomAD v4: 21-34370631-G-T
• MyVariant Identifiers: chr21:g.35742930G>T (hg19) ; chr21:g.34370631G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370631G>T , CM000683.2:g.34370631G>T	GRCh38
NC_000021.8:g.35742930G>T , CM000683.1:g.35742930G>T	GRCh37
NC_000021.7:g.34664800G>T	NCBI36
NG_008804.1:g.11608G>T , LRG_291:g.11608G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.153G>T MANE Select	ENSP00000290310.2:p.Leu51=
ENST00000290310.3:c.153G>T	ENSP00000290310.2:p.Leu51=
NM_172201.1:c.153G>T , LRG_291t1:c.153G>T	NP_751951.1:p.Leu51=
XR_937683.1:n.690C>A
XR_937684.1:n.690C>A
XR_001755012.2:n.811C>A
XR_001755013.2:n.690C>A
XR_937683.2:n.690C>A
NM_172201.2:c.153G>T MANE Select	NP_751951.1:p.Leu51=