Canonical Allele Identifier: CA10013418

Gene: KCNE2

Linked Data

• ClinVar Variation Id: 846911
• ClinVar RCV Id: RCV001050335
• dbSNP Id: rs146053586
• ExAC: 21:35742948 T / G
• gnomAD: 21:35742948 T / G
• MyVariant Identifiers: chr21:g.35742948T>G (hg19) ; chr21:g.34370649T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370649T>G , CM000683.2:g.34370649T>G	GRCh38
NC_000021.8:g.35742948T>G , CM000683.1:g.35742948T>G	GRCh37
NC_000021.7:g.34664818T>G	NCBI36
NG_008804.1:g.11626T>G , LRG_291:g.11626T>G

Transcript Alleles

HGVS	Amino-acid change
NM_172201.1:c.171T>G , LRG_291t1:c.171T>G	NP_751951.1:p.Ile57Met
XR_937683.1:n.672A>C
XR_937684.1:n.672A>C
XR_001755012.2:n.793A>C
XR_001755013.2:n.672A>C
XR_937683.2:n.672A>C
NM_172201.2:c.171T>G	NP_751951.1:p.Ile57Met
ENST00000290310.3:c.171T>G	ENSP00000290310.2:p.Ile57Met