Canonical Allele Identifier: CA10013418
Gene: KCNE2 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.34370649T>G
GRCh37 chr21:g.35742948T>G
Revel Score:
ENST00000290310 (MANE Select) 0.509
gnomAD v2:
21:35742948 T / G
gnomAD v3:
21:34370649 T / G
gnomAD v4:
chr21-34370649-T-G
Joint Max Group AF 0.00000615 (NFE)
Exomes Max Group AF 0.00000652 (NFE)
ClinVar RCV:
RCV001050335
ClinVar Variation:
846911
dbSNP:
146053586
JSON-LD

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
ENST00000290310.4:c.171T>G MANE Select ENSP00000290310.2:p.Ile57Met
ENST00000290310.3:c.171T>G ENSP00000290310.2:p.Ile57Met
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 MANE Select NP_751951.1:p.Ile57Met
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