Canonical Allele Identifier: CA2163892

Gene: DIS3L2

Linked Data

• ClinVar Variation Id: 410745
• ClinVar RCV Id: RCV000460628 ; RCV003362796
• dbSNP Id: rs751721861
• ExAC: 2:232995393 A / C
• gnomAD v2: 2-232995393-A-C
• gnomAD v3: 2-232130683-A-C
• gnomAD v4: 2-232130683-A-C
• MyVariant Identifiers: chr2:g.232995393A>C (hg19) ; chr2:g.232130683A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232130683A>C , CM000664.2:g.232130683A>C	GRCh38
NC_000002.11:g.232995393A>C , CM000664.1:g.232995393A>C	GRCh37
NC_000002.10:g.232703637A>C	NCBI36
NG_032572.1:g.174101A>C , LRG_534:g.174101A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325385.12:c.666A>C MANE Select	ENSP00000315569.7:p.Arg222Ser
ENST00000273009.10:c.666A>C	ENSP00000273009.6:p.Arg222Ser
ENST00000325385.11:c.666A>C	ENSP00000315569.7:p.Arg222Ser
ENST00000390005.9:c.666A>C	ENSP00000374655.5:p.Arg222Ser
ENST00000409307.5:c.666A>C	ENSP00000386799.1:p.Arg222Ser
ENST00000409401.7:c.666A>C	ENSP00000386594.3:p.Arg222Ser
ENST00000433430.5:c.725A>C	ENSP00000391175.1:p.Glu242Ala
ENST00000445090.5:c.666A>C	ENSP00000388999.1:p.Arg222Ser
ENST00000470087.1:n.656A>C
NM_001257281.1:c.666A>C	NP_001244210.1:p.Arg222Ser
NM_001257282.1:c.666A>C	NP_001244211.1:p.Arg222Ser
NM_152383.4:c.666A>C , LRG_534t1:c.666A>C	NP_689596.4:p.Arg222Ser
NR_046476.1:n.942A>C
NR_046477.1:n.942A>C
NM_001257281.2:c.666A>C	NP_001244210.1:p.Arg222Ser
NM_152383.5:c.666A>C MANE Select	NP_689596.4:p.Arg222Ser
NR_046476.2:n.812A>C
NR_046477.2:n.812A>C
NM_001257282.2:c.666A>C	NP_001244211.1:p.Arg222Ser