Canonical Allele Identifier: CA16610647
Gene: DIS3L2 HGNC NCBI

Linked Data

ClinVar Variation Id: 410765
ClinVar RCV Id: RCV000461422
dbSNP Id: rs1060503037
MyVariant Identifiers: chr2:g.233198549G>C (hg19) chr2:g.232333839G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232333839G>C , CM000664.2:g.232333839G>C GRCh38
NC_000002.11:g.233198549G>C , CM000664.1:g.233198549G>C GRCh37
NC_000002.10:g.232906793G>C NCBI36
NG_032572.1:g.377257G>C , LRG_534:g.377257G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000325385.12:c.2011-1G>C MANE Select ENSP00000315569.7:n.2011-1G>C
ENST00000273009.10:c.1582-9506G>C ENSP00000273009.6:n.1582-9506G>C
ENST00000325385.11:c.2011-1G>C ENSP00000315569.7:n.2011-1G>C
ENST00000390005.9:c.*78-1G>C ENSP00000374655.5:n.*78-1G>C
ENST00000409307.5:c.2011-1G>C ENSP00000386799.1:n.2011-1G>C
ENST00000424049.1:c.916-1G>C ENSP00000415419.1:n.916-1G>C
ENST00000429283.2:n.1577-1G>C
ENST00000433430.5:c.3422-1G>C ENSP00000391175.1:n.3422-1G>C
ENST00000445090.5:c.*1167-1G>C ENSP00000388999.1:n.*1167-1G>C
NM_001257281.1:c.1582-9506G>C NP_001244210.1:n.1582-9506G>C
NM_152383.4:c.2011-1G>C , LRG_534t1:c.2011-1G>C NP_689596.4:n.2011-1G>C
NR_046476.1:n.2214-1G>C
NR_046477.1:n.2193-1G>C
NM_001257281.2:c.1582-9506G>C NP_001244210.1:n.1582-9506G>C
NM_152383.5:c.2011-1G>C MANE Select NP_689596.4:n.2011-1G>C
NR_046476.2:n.2084-1G>C
NR_046477.2:n.2063-1G>C
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