Canonical Allele Identifier: CA301978

Gene: KCNE2

Linked Data

• ClinVar Variation Id: 190792
• ClinVar RCV Id: RCV000170951 ; RCV000254504 ; RCV000586241 ; RCV000648403 ; RCV001142019
• dbSNP Id: rs187917779
• ExAC: 21:35743131 G / A
• gnomAD v2: 21-35743131-G-A
• gnomAD v3: 21-34370832-G-A
• gnomAD v4: 21-34370832-G-A
• MyVariant Identifiers: chr21:g.35743131G>A (hg19) ; chr21:g.34370832G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370832G>A , CM000683.2:g.34370832G>A	GRCh38
NC_000021.8:g.35743131G>A , CM000683.1:g.35743131G>A	GRCh37
NC_000021.7:g.34665001G>A	NCBI36
NG_008804.1:g.11809G>A , LRG_291:g.11809G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.354G>A MANE Select	ENSP00000290310.2:p.Gly118=
ENST00000290310.3:c.354G>A	ENSP00000290310.2:p.Gly118=
NM_172201.1:c.354G>A , LRG_291t1:c.354G>A	NP_751951.1:p.Gly118=
XR_937683.1:n.489C>T
XR_937684.1:n.489C>T
XR_001755012.2:n.610C>T
XR_001755013.2:n.489C>T
XR_937683.2:n.489C>T
NM_172201.2:c.354G>A MANE Select	NP_751951.1:p.Gly118=