Canonical Allele Identifier: CA350977302

Gene: DIS3L2

Linked Data

• MyVariant Identifiers: chr2:g.233198554C>T (hg19) ; chr2:g.232333844C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232333844C>T , CM000664.2:g.232333844C>T	GRCh38
NC_000002.11:g.233198554C>T , CM000664.1:g.233198554C>T	GRCh37
NC_000002.10:g.232906798C>T	NCBI36
NG_032572.1:g.377262C>T , LRG_534:g.377262C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000325385.12:c.2015C>T MANE Select	ENSP00000315569.7:p.Ala672Val
ENST00000273009.10:c.1582-9501C>T	ENSP00000273009.6:n.1582-9501C>T
ENST00000325385.11:c.2015C>T	ENSP00000315569.7:p.Ala672Val
ENST00000390005.9:c.*82C>T	ENSP00000374655.5:n.*82C>T
ENST00000409307.5:c.2015C>T	ENSP00000386799.1:p.Ala672Val
ENST00000424049.1:c.920C>T	ENSP00000415419.1:p.Ala307Val
ENST00000429283.2:n.1581C>T
ENST00000433430.5:c.3426C>T	ENSP00000391175.1:n.3426C>T
ENST00000445090.5:c.*1171C>T	ENSP00000388999.1:n.*1171C>T
NM_001257281.1:c.1582-9501C>T	NP_001244210.1:n.1582-9501C>T
NM_152383.4:c.2015C>T , LRG_534t1:c.2015C>T	NP_689596.4:p.Ala672Val
NR_046476.1:n.2218C>T
NR_046477.1:n.2197C>T
NM_001257281.2:c.1582-9501C>T	NP_001244210.1:n.1582-9501C>T
NM_152383.5:c.2015C>T MANE Select	NP_689596.4:p.Ala672Val
NR_046476.2:n.2088C>T
NR_046477.2:n.2067C>T