Canonical Allele Identifier: CA2164297

Gene: DIS3L2

Linked Data

• ClinVar Variation Id: 334942
• ClinVar RCV Id: RCV000284852
• dbSNP Id: rs778830625
• ExAC: 2:233194691 C / T
• gnomAD v2: 2-233194691-C-T
• gnomAD v3: 2-232329981-C-T
• gnomAD v4: 2-232329981-C-T
• COSMIC: COSM4092367
• MyVariant Identifiers: chr2:g.233194691C>T (hg19) ; chr2:g.232329981C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232329981C>T , CM000664.2:g.232329981C>T	GRCh38
NC_000002.11:g.233194691C>T , CM000664.1:g.233194691C>T	GRCh37
NC_000002.10:g.232902935C>T	NCBI36
NG_032572.1:g.373399C>T , LRG_534:g.373399C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325385.12:c.1908C>T MANE Select	ENSP00000315569.7:p.Ser636=
ENST00000273009.10:c.1582-13364C>T	ENSP00000273009.6:n.1582-13364C>T
ENST00000325385.11:c.1908C>T	ENSP00000315569.7:p.Ser636=
ENST00000390005.9:c.1835C>T	ENSP00000374655.5:p.Pro612Leu
ENST00000409307.5:c.1908C>T	ENSP00000386799.1:p.Ser636=
ENST00000424049.1:c.813C>T	ENSP00000415419.1:p.Ser271=
ENST00000429283.2:n.1474C>T
ENST00000433430.5:c.3062C>T	ENSP00000391175.1:n.3062C>T
ENST00000445090.5:c.*1064C>T	ENSP00000388999.1:n.*1064C>T
NM_001257281.1:c.1582-13364C>T	NP_001244210.1:n.1582-13364C>T
NM_152383.4:c.1908C>T , LRG_534t1:c.1908C>T	NP_689596.4:p.Ser636=
NR_046476.1:n.2111C>T
NR_046477.1:n.2090C>T
NM_001257281.2:c.1582-13364C>T	NP_001244210.1:n.1582-13364C>T
NM_152383.5:c.1908C>T MANE Select	NP_689596.4:p.Ser636=
NR_046476.2:n.1981C>T
NR_046477.2:n.1960C>T