Canonical Allele Identifier: CA6442279
Gene: CLEC2B HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.9857480T>G
GRCh37 chr12:g.10010079T>G
Revel Score:
ENST00000228438 (MANE Select) 0.055
gnomAD v2:
12:10010079 T / G
gnomAD v4:
chr12-9857480-T-G
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV004301195
ClinVar Variation:
2528880
dbSNP:
747546569
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9857480T>G , CM000674.2:g.9857480T>G GRCh38
NC_000012.11:g.10010079T>G , CM000674.1:g.10010079T>G GRCh37
NC_000012.10:g.9901346T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000228438.3:c.231A>C MANE Select ENSP00000228438.2:p.Glu77Asp
ENST00000228438.2:c.231A>C ENSP00000228438.2:p.Glu77Asp
ENST00000539028.1:n.308A>C
ENST00000540743.1:n.415A>C
NM_005127.2:c.231A>C NP_005118.2:p.Glu77Asp
NM_005127.3:c.231A>C MANE Select NP_005118.2:p.Glu77Asp
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