Canonical Allele Identifier: CA221687779

Gene: DDB2

Linked Data

• dbSNP Id: rs969851892
• gnomAD v2: 11-47257107-T-C
• gnomAD v3: 11-47235556-T-C
• gnomAD v4: 11-47235556-T-C
• MyVariant Identifiers: chr11:g.47257107T>C (hg19) ; chr11:g.47235556T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47235556T>C , CM000673.2:g.47235556T>C	GRCh38
NC_000011.9:g.47257107T>C , CM000673.1:g.47257107T>C	GRCh37
NC_000011.8:g.47213683T>C	NCBI36
NG_009365.1:g.25615T>C , LRG_467:g.25615T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.1023+144T>C MANE Select	ENSP00000256996.4:n.1023+144T>C
ENST00000256996.8:c.1023+144T>C	ENSP00000256996.3:n.1023+144T>C
ENST00000378600.7:c.457-2281T>C	ENSP00000367863.3:n.457-2281T>C
ENST00000378601.7:c.*110+144T>C	ENSP00000367864.3:n.*110+144T>C
ENST00000378603.7:c.831+144T>C	ENSP00000367866.3:n.831+144T>C
ENST00000612309.4:n.2472+144T>C
ENST00000614394.1:n.557T>C
ENST00000616278.4:c.699+144T>C	ENSP00000478411.1:n.699+144T>C
ENST00000617022.4:n.1554-2281T>C
ENST00000617847.4:c.952+144T>C
ENST00000620515.1:n.189+144T>C
NM_000107.2:c.1023+144T>C , LRG_467t1:c.1023+144T>C	NP_000098.1:n.1023+144T>C
NM_001300734.1:c.457-2281T>C	NP_001287663.1:n.457-2281T>C
XR_242780.3:n.1013+144T>C
XR_242780.4:n.1013+144T>C
NM_000107.3:c.1023+144T>C MANE Select	NP_000098.1:n.1023+144T>C
NM_001300734.2:c.457-2281T>C	NP_001287663.1:n.457-2281T>C
NM_001399874.1:c.1023+144T>C	NP_001386803.1:n.1023+144T>C
NM_001399875.1:c.1023+144T>C	NP_001386804.1:n.1023+144T>C
NM_001399876.1:c.457-2281T>C	NP_001386805.1:n.457-2281T>C
NM_001399878.1:c.831+144T>C	NP_001386807.1:n.831+144T>C
NR_174610.1:n.1274+144T>C
NR_174611.1:n.1252+144T>C