Canonical Allele Identifier: CA380297147

Gene: DDB2

Linked Data

• MyVariant Identifiers: chr11:g.47256933C>A (hg19) ; chr11:g.47235382C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47235382C>A , CM000673.2:g.47235382C>A	GRCh38
NC_000011.9:g.47256933C>A , CM000673.1:g.47256933C>A	GRCh37
NC_000011.8:g.47213509C>A	NCBI36
NG_009365.1:g.25441C>A , LRG_467:g.25441C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.993C>A MANE Select	ENSP00000256996.4:p.His331Gln
ENST00000256996.8:c.993C>A	ENSP00000256996.3:p.His331Gln
ENST00000378600.7:c.457-2455C>A	ENSP00000367863.3:n.457-2455C>A
ENST00000378601.7:c.*80C>A	ENSP00000367864.3:n.*80C>A
ENST00000378603.7:c.801C>A	ENSP00000367866.3:p.His267Gln
ENST00000612309.4:n.2442C>A
ENST00000614394.1:n.383C>A
ENST00000616278.4:c.669C>A	ENSP00000478411.1:n.669C>A
ENST00000617022.4:n.1554-2455C>A
ENST00000617847.4:c.922C>A
ENST00000620515.1:n.159C>A
NM_000107.2:c.993C>A , LRG_467t1:c.993C>A	NP_000098.1:p.His331Gln
NM_001300734.1:c.457-2455C>A	NP_001287663.1:n.457-2455C>A
XR_242780.3:n.983C>A
XR_242780.4:n.983C>A
NM_000107.3:c.993C>A MANE Select	NP_000098.1:p.His331Gln
NM_001300734.2:c.457-2455C>A	NP_001287663.1:n.457-2455C>A
NM_001399874.1:c.993C>A	NP_001386803.1:p.His331Gln
NM_001399875.1:c.993C>A	NP_001386804.1:p.His331Gln
NM_001399876.1:c.457-2455C>A	NP_001386805.1:n.457-2455C>A
NM_001399878.1:c.801C>A	NP_001386807.1:p.His267Gln
NR_174610.1:n.1244C>A
NR_174611.1:n.1222C>A