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Canonical Allele Identifier:
CA10013418
Gene: KCNE2
HGNC
NCBI
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)
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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
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