Canonical Allele Identifier: CA380296707

Gene: DDB2

Linked Data

• MyVariant Identifiers: chr11:g.47256847C>A (hg19) ; chr11:g.47235296C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47235296C>A , CM000673.2:g.47235296C>A	GRCh38
NC_000011.9:g.47256847C>A , CM000673.1:g.47256847C>A	GRCh37
NC_000011.8:g.47213423C>A	NCBI36
NG_009365.1:g.25355C>A , LRG_467:g.25355C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.907C>A MANE Select	ENSP00000256996.4:p.Leu303Ile
ENST00000256996.8:c.907C>A	ENSP00000256996.3:p.Leu303Ile
ENST00000378600.7:c.457-2541C>A	ENSP00000367863.3:n.457-2541C>A
ENST00000378601.7:c.729C>A	ENSP00000367864.3:p.Gly243=
ENST00000378603.7:c.715C>A	ENSP00000367866.3:p.Leu239Ile
ENST00000612309.4:n.2356C>A
ENST00000614394.1:n.297C>A
ENST00000616278.4:c.583C>A	ENSP00000478411.1:n.583C>A
ENST00000617022.4:n.1554-2541C>A
ENST00000617847.4:c.836C>A
ENST00000620515.1:n.73C>A
NM_000107.2:c.907C>A , LRG_467t1:c.907C>A	NP_000098.1:p.Leu303Ile
NM_001300734.1:c.457-2541C>A	NP_001287663.1:n.457-2541C>A
XR_242780.3:n.897C>A
XR_242780.4:n.897C>A
NM_000107.3:c.907C>A MANE Select	NP_000098.1:p.Leu303Ile
NM_001300734.2:c.457-2541C>A	NP_001287663.1:n.457-2541C>A
NM_001399874.1:c.907C>A	NP_001386803.1:p.Leu303Ile
NM_001399875.1:c.907C>A	NP_001386804.1:p.Leu303Ile
NM_001399876.1:c.457-2541C>A	NP_001386805.1:n.457-2541C>A
NM_001399878.1:c.715C>A	NP_001386807.1:p.Leu239Ile
NR_174610.1:n.1158C>A
NR_174611.1:n.1136C>A