Canonical Allele Identifier: CA2163750

Gene: DIS3L2

Linked Data

• ClinVar Variation Id: 416340
• ClinVar RCV Id: RCV000466611
• dbSNP Id: rs752596889
• ExAC: 2:232888977 TG / T
• gnomAD v2: 2-232888977-TG-T
• gnomAD v3: 2-232024267-TG-T
• gnomAD v4: 2-232024267-TG-T
• MyVariant Identifiers: chr2:g.232888978del (hg19) ; chr2:g.232024268del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232024268del , CM000664.2:g.232024268del	GRCh38
NC_000002.11:g.232888978del , CM000664.1:g.232888978del	GRCh37
NC_000002.10:g.232597222del	NCBI36
NG_032572.1:g.67686del , LRG_534:g.67686del

Transcript Alleles

HGVS	Amino-acid change
ENST00000325385.12:c.211-9del MANE Select	ENSP00000315569.7:n.211-9del
ENST00000273009.10:c.211-9del	ENSP00000273009.6:n.211-9del
ENST00000325385.11:c.211-9del	ENSP00000315569.7:n.211-9del
ENST00000390005.9:c.211-9del	ENSP00000374655.5:n.211-9del
ENST00000409307.5:c.211-9del	ENSP00000386799.1:n.211-9del
ENST00000409401.7:c.211-9del	ENSP00000386594.3:n.211-9del
ENST00000433430.5:c.211-9del	ENSP00000391175.1:n.211-9del
ENST00000441279.5:c.211-9del	ENSP00000390467.1:n.211-9del
ENST00000445090.5:c.211-9del	ENSP00000388999.1:n.211-9del
ENST00000464554.5:n.72-9del
ENST00000470087.1:n.201-9del
NM_001257281.1:c.211-9del	NP_001244210.1:n.211-9del
NM_001257282.1:c.211-9del	NP_001244211.1:n.211-9del
NM_152383.4:c.211-9del , LRG_534t1:c.211-9del	NP_689596.4:n.211-9del
NR_046476.1:n.487-9del
NR_046477.1:n.487-9del
NM_001257281.2:c.211-9del	NP_001244210.1:n.211-9del
NM_152383.5:c.211-9del MANE Select	NP_689596.4:n.211-9del
NR_046476.2:n.357-9del
NR_046477.2:n.357-9del
NM_001257282.2:c.211-9del	NP_001244211.1:n.211-9del