Canonical Allele Identifier: CA5972630

Gene: DDB2

Linked Data

• dbSNP Id: rs373044335
• ExAC: 11:47256462 C / T
• gnomAD v2: 11-47256462-C-T
• gnomAD v3: 11-47234911-C-T
• gnomAD v4: 11-47234911-C-T
• MyVariant Identifiers: chr11:g.47256462C>T (hg19) ; chr11:g.47234911C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47234911C>T , CM000673.2:g.47234911C>T	GRCh38
NC_000011.9:g.47256462C>T , CM000673.1:g.47256462C>T	GRCh37
NC_000011.8:g.47213038C>T	NCBI36
NG_009365.1:g.24970C>T , LRG_467:g.24970C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.857C>T MANE Select	ENSP00000256996.4:p.Pro286Leu
ENST00000256996.8:c.857C>T	ENSP00000256996.3:p.Pro286Leu
ENST00000378600.7:c.457-2926C>T	ENSP00000367863.3:n.457-2926C>T
ENST00000378601.7:c.702+239C>T	ENSP00000367864.3:n.702+239C>T
ENST00000378603.7:c.665C>T	ENSP00000367866.3:p.Pro222Leu
ENST00000612309.4:n.1971C>T
ENST00000614394.1:n.247C>T
ENST00000616278.4:c.556+239C>T	ENSP00000478411.1:n.556+239C>T
ENST00000617022.4:n.1554-2926C>T
ENST00000617847.4:c.786C>T
ENST00000620515.1:n.46+239C>T
NM_000107.2:c.857C>T , LRG_467t1:c.857C>T	NP_000098.1:p.Pro286Leu
NM_001300734.1:c.457-2926C>T	NP_001287663.1:n.457-2926C>T
XR_242780.3:n.870+239C>T
XR_242780.4:n.870+239C>T
NM_000107.3:c.857C>T MANE Select	NP_000098.1:p.Pro286Leu
NM_001300734.2:c.457-2926C>T	NP_001287663.1:n.457-2926C>T
NM_001399874.1:c.857C>T	NP_001386803.1:p.Pro286Leu
NM_001399875.1:c.857C>T	NP_001386804.1:p.Pro286Leu
NM_001399876.1:c.457-2926C>T	NP_001386805.1:n.457-2926C>T
NM_001399878.1:c.665C>T	NP_001386807.1:p.Pro222Leu
NR_174610.1:n.1131+239C>T
NR_174611.1:n.1109+35C>T