Canonical Allele Identifier: CA350977298

Gene: DIS3L2

Linked Data

• gnomAD v4: 2-232333843-G-T
• MyVariant Identifiers: chr2:g.233198553G>T (hg19) ; chr2:g.232333843G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232333843G>T , CM000664.2:g.232333843G>T	GRCh38
NC_000002.11:g.233198553G>T , CM000664.1:g.233198553G>T	GRCh37
NC_000002.10:g.232906797G>T	NCBI36
NG_032572.1:g.377261G>T , LRG_534:g.377261G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000325385.12:c.2014G>T MANE Select	ENSP00000315569.7:p.Ala672Ser
ENST00000273009.10:c.1582-9502G>T	ENSP00000273009.6:n.1582-9502G>T
ENST00000325385.11:c.2014G>T	ENSP00000315569.7:p.Ala672Ser
ENST00000390005.9:c.*81G>T	ENSP00000374655.5:n.*81G>T
ENST00000409307.5:c.2014G>T	ENSP00000386799.1:p.Ala672Ser
ENST00000424049.1:c.919G>T	ENSP00000415419.1:p.Ala307Ser
ENST00000429283.2:n.1580G>T
ENST00000433430.5:c.3425G>T	ENSP00000391175.1:n.3425G>T
ENST00000445090.5:c.*1170G>T	ENSP00000388999.1:n.*1170G>T
NM_001257281.1:c.1582-9502G>T	NP_001244210.1:n.1582-9502G>T
NM_152383.4:c.2014G>T , LRG_534t1:c.2014G>T	NP_689596.4:p.Ala672Ser
NR_046476.1:n.2217G>T
NR_046477.1:n.2196G>T
NM_001257281.2:c.1582-9502G>T	NP_001244210.1:n.1582-9502G>T
NM_152383.5:c.2014G>T MANE Select	NP_689596.4:p.Ala672Ser
NR_046476.2:n.2087G>T
NR_046477.2:n.2066G>T