Canonical Allele Identifier: CA350977295

Gene: DIS3L2

Linked Data

• MyVariant Identifiers: chr2:g.233198552G>C (hg19) ; chr2:g.232333842G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232333842G>C , CM000664.2:g.232333842G>C	GRCh38
NC_000002.11:g.233198552G>C , CM000664.1:g.233198552G>C	GRCh37
NC_000002.10:g.232906796G>C	NCBI36
NG_032572.1:g.377260G>C , LRG_534:g.377260G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000325385.12:c.2013G>C MANE Select	ENSP00000315569.7:p.Met671Ile
ENST00000273009.10:c.1582-9503G>C	ENSP00000273009.6:n.1582-9503G>C
ENST00000325385.11:c.2013G>C	ENSP00000315569.7:p.Met671Ile
ENST00000390005.9:c.*80G>C	ENSP00000374655.5:n.*80G>C
ENST00000409307.5:c.2013G>C	ENSP00000386799.1:p.Met671Ile
ENST00000424049.1:c.918G>C	ENSP00000415419.1:p.Met306Ile
ENST00000429283.2:n.1579G>C
ENST00000433430.5:c.3424G>C	ENSP00000391175.1:n.3424G>C
ENST00000445090.5:c.*1169G>C	ENSP00000388999.1:n.*1169G>C
NM_001257281.1:c.1582-9503G>C	NP_001244210.1:n.1582-9503G>C
NM_152383.4:c.2013G>C , LRG_534t1:c.2013G>C	NP_689596.4:p.Met671Ile
NR_046476.1:n.2216G>C
NR_046477.1:n.2195G>C
NM_001257281.2:c.1582-9503G>C	NP_001244210.1:n.1582-9503G>C
NM_152383.5:c.2013G>C MANE Select	NP_689596.4:p.Met671Ile
NR_046476.2:n.2086G>C
NR_046477.2:n.2065G>C