Canonical Allele Identifier: CA380295875

Gene: DDB2

Linked Data

• MyVariant Identifiers: chr11:g.47256354T>A (hg19) ; chr11:g.47234803T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47234803T>A , CM000673.2:g.47234803T>A	GRCh38
NC_000011.9:g.47256354T>A , CM000673.1:g.47256354T>A	GRCh37
NC_000011.8:g.47212930T>A	NCBI36
NG_009365.1:g.24862T>A , LRG_467:g.24862T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.749T>A MANE Select	ENSP00000256996.4:p.Leu250Gln
ENST00000256996.8:c.749T>A	ENSP00000256996.3:p.Leu250Gln
ENST00000378600.7:c.457-3034T>A	ENSP00000367863.3:n.457-3034T>A
ENST00000378601.7:c.702+131T>A	ENSP00000367864.3:n.702+131T>A
ENST00000378603.7:c.557T>A	ENSP00000367866.3:p.Leu186Gln
ENST00000612309.4:n.1863T>A
ENST00000614394.1:n.139T>A
ENST00000616278.4:c.556+131T>A	ENSP00000478411.1:n.556+131T>A
ENST00000617022.4:n.1554-3034T>A
ENST00000617847.4:c.678T>A
ENST00000620515.1:n.46+131T>A
NM_000107.2:c.749T>A , LRG_467t1:c.749T>A	NP_000098.1:p.Leu250Gln
NM_001300734.1:c.457-3034T>A	NP_001287663.1:n.457-3034T>A
XR_242780.3:n.870+131T>A
XR_242780.4:n.870+131T>A
NM_000107.3:c.749T>A MANE Select	NP_000098.1:p.Leu250Gln
NM_001300734.2:c.457-3034T>A	NP_001287663.1:n.457-3034T>A
NM_001399874.1:c.749T>A	NP_001386803.1:p.Leu250Gln
NM_001399875.1:c.749T>A	NP_001386804.1:p.Leu250Gln
NM_001399876.1:c.457-3034T>A	NP_001386805.1:n.457-3034T>A
NM_001399878.1:c.557T>A	NP_001386807.1:p.Leu186Gln
NR_174610.1:n.1131+131T>A
NR_174611.1:n.1036T>A