Canonical Allele Identifier: CA383856739
Gene: CLEC2D HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9681030A>C , CM000674.2:g.9681030A>C GRCh38
NC_000012.11:g.9833626A>C , CM000674.1:g.9833626A>C GRCh37
NC_000012.10:g.9724893A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000290855.11:c.169A>C MANE Select ENSP00000290855.6:p.Ser57Arg
ENST00000261339.10:c.62-6872A>C ENSP00000261339.6:n.62-6872A>C
ENST00000261340.11:c.169A>C ENSP00000261340.7:p.Ser57Arg
ENST00000290855.10:c.169A>C ENSP00000290855.6:p.Ser57Arg
ENST00000325960.11:c.169A>C ENSP00000371409.3:p.Ser57Arg
ENST00000430909.5:c.106A>C ENSP00000413045.1:p.Ser36Arg
ENST00000444971.6:c.169A>C ENSP00000399744.2:p.Ser57Arg
ENST00000466035.6:c.44-6872A>C ENSP00000446028.1:n.44-6872A>C
ENST00000476198.2:c.43A>C ENSP00000443627.1:p.Ser15Arg
ENST00000479877.5:c.169A>C ENSP00000441653.1:p.Ser57Arg
ENST00000487752.1:n.267A>C
ENST00000492359.6:c.*66A>C ENSP00000443110.1:n.*66A>C
ENST00000536355.5:c.43A>C ENSP00000438735.1:p.Ser15Arg
ENST00000543300.5:c.169A>C ENSP00000443065.1:p.Ser57Arg
ENST00000544322.1:c.91A>C ENSP00000437861.1:p.Ser31Arg
ENST00000545918.5:c.62-6872A>C ENSP00000444818.1:n.62-6872A>C
NM_001004419.4:c.169A>C NP_001004419.1:p.Ser57Arg
NM_001197317.2:c.62-6872A>C NP_001184246.1:n.62-6872A>C
NM_001197318.2:c.169A>C NP_001184247.1:p.Ser57Arg
NM_001197319.2:c.62-6872A>C NP_001184248.1:n.62-6872A>C
NM_013269.5:c.169A>C NP_037401.1:p.Ser57Arg
NR_036693.2:n.196A>C
NM_013269.6:c.169A>C MANE Select NP_037401.1:p.Ser57Arg
NM_001004419.5:c.169A>C NP_001004419.1:p.Ser57Arg
NM_001197317.3:c.62-6872A>C NP_001184246.1:n.62-6872A>C
NM_001197318.3:c.169A>C NP_001184247.1:p.Ser57Arg
NM_001197319.3:c.62-6872A>C NP_001184248.1:n.62-6872A>C
NR_036693.3:n.191A>C