Canonical Allele Identifier: CA10013440

Gene: KCNE2

Linked Data

• ClinVar Variation Id: 379226
• ClinVar RCV Id: RCV000439315 ; RCV001088045 ; RCV000620110
• dbSNP Id: rs183427173
• ExAC: 21:35743094 C / T
• gnomAD v2: 21-35743094-C-T
• gnomAD v3: 21-34370795-C-T
• gnomAD v4: 21-34370795-C-T
• MyVariant Identifiers: chr21:g.35743094C>T (hg19) ; chr21:g.34370795C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370795C>T , CM000683.2:g.34370795C>T	GRCh38
NC_000021.8:g.35743094C>T , CM000683.1:g.35743094C>T	GRCh37
NC_000021.7:g.34664964C>T	NCBI36
NG_008804.1:g.11772C>T , LRG_291:g.11772C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.317C>T MANE Select	ENSP00000290310.2:p.Ser106Leu
ENST00000290310.3:c.317C>T	ENSP00000290310.2:p.Ser106Leu
NM_172201.1:c.317C>T , LRG_291t1:c.317C>T	NP_751951.1:p.Ser106Leu
XR_937683.1:n.526G>A
XR_937684.1:n.526G>A
XR_001755012.2:n.647G>A
XR_001755013.2:n.526G>A
XR_937683.2:n.526G>A
NM_172201.2:c.317C>T MANE Select	NP_751951.1:p.Ser106Leu