Canonical Allele Identifier: CA2163713

Gene: DIS3L2

Linked Data

• ClinVar Variation Id: 463130
• ClinVar RCV Id: RCV002528351
• dbSNP Id: rs780747005
• ExAC: 2:232880250 G / C
• gnomAD v2: 2-232880250-G-C
• gnomAD v3: 2-232015540-G-C
• gnomAD v4: 2-232015540-G-C
• MyVariant Identifiers: chr2:g.232880250G>C (hg19) ; chr2:g.232015540G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232015540G>C , CM000664.2:g.232015540G>C	GRCh38
NC_000002.11:g.232880250G>C , CM000664.1:g.232880250G>C	GRCh37
NC_000002.10:g.232588494G>C	NCBI36
NG_032572.1:g.58958G>C , LRG_534:g.58958G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000325385.12:c.79G>C MANE Select	ENSP00000315569.7:p.Asp27His
ENST00000273009.10:c.79G>C	ENSP00000273009.6:p.Asp27His
ENST00000325385.11:c.79G>C	ENSP00000315569.7:p.Asp27His
ENST00000390005.9:c.79G>C	ENSP00000374655.5:p.Asp27His
ENST00000409307.5:c.79G>C	ENSP00000386799.1:p.Asp27His
ENST00000409401.7:c.79G>C	ENSP00000386594.3:p.Asp27His
ENST00000433430.5:c.79G>C	ENSP00000391175.1:p.Asp27His
ENST00000441279.5:c.79G>C	ENSP00000390467.1:p.Asp27His
ENST00000445090.5:c.79G>C	ENSP00000388999.1:p.Asp27His
NM_001257281.1:c.79G>C	NP_001244210.1:p.Asp27His
NM_001257282.1:c.79G>C	NP_001244211.1:p.Asp27His
NM_152383.4:c.79G>C , LRG_534t1:c.79G>C	NP_689596.4:p.Asp27His
NR_046476.1:n.355G>C
NR_046477.1:n.355G>C
NM_001257281.2:c.79G>C	NP_001244210.1:p.Asp27His
NM_152383.5:c.79G>C MANE Select	NP_689596.4:p.Asp27His
NR_046476.2:n.225G>C
NR_046477.2:n.225G>C
NM_001257282.2:c.79G>C	NP_001244211.1:p.Asp27His