Canonical Allele Identifier: CA383862521
Gene: CLEC2B HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.9857553T>A
GRCh37 chr12:g.10010152T>A
Revel Score:
ENST00000228438 (MANE Select) 0.094
ClinVar RCV:
RCV004172675
ClinVar Variation:
2331962
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9857553T>A , CM000674.2:g.9857553T>A GRCh38
NC_000012.11:g.10010152T>A , CM000674.1:g.10010152T>A GRCh37
NC_000012.10:g.9901419T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000228438.3:c.158A>T MANE Select ENSP00000228438.2:p.Glu53Val
ENST00000228438.2:c.158A>T ENSP00000228438.2:p.Glu53Val
ENST00000539028.1:n.235A>T
ENST00000540743.1:n.342A>T
NM_005127.2:c.158A>T NP_005118.2:p.Glu53Val
NM_005127.3:c.158A>T MANE Select NP_005118.2:p.Glu53Val
Search 100 bp 5'
Search 100 bp 3'