Canonical Allele Identifier: CA380296593

Gene: DDB2

Linked Data

• gnomAD v4: 11-47235270-C-T
• MyVariant Identifiers: chr11:g.47256821C>T (hg19) ; chr11:g.47235270C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47235270C>T , CM000673.2:g.47235270C>T	GRCh38
NC_000011.9:g.47256821C>T , CM000673.1:g.47256821C>T	GRCh37
NC_000011.8:g.47213397C>T	NCBI36
NG_009365.1:g.25329C>T , LRG_467:g.25329C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.881C>T MANE Select	ENSP00000256996.4:p.Ala294Val
ENST00000256996.8:c.881C>T	ENSP00000256996.3:p.Ala294Val
ENST00000378600.7:c.457-2567C>T	ENSP00000367863.3:n.457-2567C>T
ENST00000378601.7:c.703C>T	ENSP00000367864.3:p.Leu235Phe
ENST00000378603.7:c.689C>T	ENSP00000367866.3:p.Ala230Val
ENST00000612309.4:n.2330C>T
ENST00000614394.1:n.271C>T
ENST00000616278.4:c.557C>T	ENSP00000478411.1:n.557C>T
ENST00000617022.4:n.1554-2567C>T
ENST00000617847.4:c.810C>T
ENST00000620515.1:n.47C>T
NM_000107.2:c.881C>T , LRG_467t1:c.881C>T	NP_000098.1:p.Ala294Val
NM_001300734.1:c.457-2567C>T	NP_001287663.1:n.457-2567C>T
XR_242780.3:n.871C>T
XR_242780.4:n.871C>T
NM_000107.3:c.881C>T MANE Select	NP_000098.1:p.Ala294Val
NM_001300734.2:c.457-2567C>T	NP_001287663.1:n.457-2567C>T
NM_001399874.1:c.881C>T	NP_001386803.1:p.Ala294Val
NM_001399875.1:c.881C>T	NP_001386804.1:p.Ala294Val
NM_001399876.1:c.457-2567C>T	NP_001386805.1:n.457-2567C>T
NM_001399878.1:c.689C>T	NP_001386807.1:p.Ala230Val
NR_174610.1:n.1132C>T
NR_174611.1:n.1110C>T