Canonical Allele Identifier: CA5972677

Gene: DDB2

Linked Data

• dbSNP Id: rs766181715
• ExAC: 11:47256954 A / T
• gnomAD v2: 11-47256954-A-T
• gnomAD v4: 11-47235403-A-T
• MyVariant Identifiers: chr11:g.47256954A>T (hg19) ; chr11:g.47235403A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47235403A>T , CM000673.2:g.47235403A>T	GRCh38
NC_000011.9:g.47256954A>T , CM000673.1:g.47256954A>T	GRCh37
NC_000011.8:g.47213530A>T	NCBI36
NG_009365.1:g.25462A>T , LRG_467:g.25462A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.1014A>T MANE Select	ENSP00000256996.4:p.Thr338=
ENST00000256996.8:c.1014A>T	ENSP00000256996.3:p.Thr338=
ENST00000378600.7:c.457-2434A>T	ENSP00000367863.3:n.457-2434A>T
ENST00000378601.7:c.*101A>T	ENSP00000367864.3:n.*101A>T
ENST00000378603.7:c.822A>T	ENSP00000367866.3:p.Thr274=
ENST00000612309.4:n.2463A>T
ENST00000614394.1:n.404A>T
ENST00000616278.4:c.690A>T	ENSP00000478411.1:n.690A>T
ENST00000617022.4:n.1554-2434A>T
ENST00000617847.4:c.943A>T
ENST00000620515.1:n.180A>T
NM_000107.2:c.1014A>T , LRG_467t1:c.1014A>T	NP_000098.1:p.Thr338=
NM_001300734.1:c.457-2434A>T	NP_001287663.1:n.457-2434A>T
XR_242780.3:n.1004A>T
XR_242780.4:n.1004A>T
NM_000107.3:c.1014A>T MANE Select	NP_000098.1:p.Thr338=
NM_001300734.2:c.457-2434A>T	NP_001287663.1:n.457-2434A>T
NM_001399874.1:c.1014A>T	NP_001386803.1:p.Thr338=
NM_001399875.1:c.1014A>T	NP_001386804.1:p.Thr338=
NM_001399876.1:c.457-2434A>T	NP_001386805.1:n.457-2434A>T
NM_001399878.1:c.822A>T	NP_001386807.1:p.Thr274=
NR_174610.1:n.1265A>T
NR_174611.1:n.1243A>T