Canonical Allele Identifier: CA380296849

Gene: DDB2

Linked Data

• MyVariant Identifiers: chr11:g.47256873G>T (hg19) ; chr11:g.47235322G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47235322G>T , CM000673.2:g.47235322G>T	GRCh38
NC_000011.9:g.47256873G>T , CM000673.1:g.47256873G>T	GRCh37
NC_000011.8:g.47213449G>T	NCBI36
NG_009365.1:g.25381G>T , LRG_467:g.25381G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.933G>T MANE Select	ENSP00000256996.4:p.Glu311Asp
ENST00000256996.8:c.933G>T	ENSP00000256996.3:p.Glu311Asp
ENST00000378600.7:c.457-2515G>T	ENSP00000367863.3:n.457-2515G>T
ENST00000378601.7:c.*20G>T	ENSP00000367864.3:n.*20G>T
ENST00000378603.7:c.741G>T	ENSP00000367866.3:p.Glu247Asp
ENST00000612309.4:n.2382G>T
ENST00000614394.1:n.323G>T
ENST00000616278.4:c.609G>T	ENSP00000478411.1:n.609G>T
ENST00000617022.4:n.1554-2515G>T
ENST00000617847.4:c.862G>T
ENST00000620515.1:n.99G>T
NM_000107.2:c.933G>T , LRG_467t1:c.933G>T	NP_000098.1:p.Glu311Asp
NM_001300734.1:c.457-2515G>T	NP_001287663.1:n.457-2515G>T
XR_242780.3:n.923G>T
XR_242780.4:n.923G>T
NM_000107.3:c.933G>T MANE Select	NP_000098.1:p.Glu311Asp
NM_001300734.2:c.457-2515G>T	NP_001287663.1:n.457-2515G>T
NM_001399874.1:c.933G>T	NP_001386803.1:p.Glu311Asp
NM_001399875.1:c.933G>T	NP_001386804.1:p.Glu311Asp
NM_001399876.1:c.457-2515G>T	NP_001386805.1:n.457-2515G>T
NM_001399878.1:c.741G>T	NP_001386807.1:p.Glu247Asp
NR_174610.1:n.1184G>T
NR_174611.1:n.1162G>T