Canonical Allele Identifier: CA380297179

Gene: DDB2

Linked Data

• MyVariant Identifiers: chr11:g.47256941T>C (hg19) ; chr11:g.47235390T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47235390T>C , CM000673.2:g.47235390T>C	GRCh38
NC_000011.9:g.47256941T>C , CM000673.1:g.47256941T>C	GRCh37
NC_000011.8:g.47213517T>C	NCBI36
NG_009365.1:g.25449T>C , LRG_467:g.25449T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.1001T>C MANE Select	ENSP00000256996.4:p.Phe334Ser
ENST00000256996.8:c.1001T>C	ENSP00000256996.3:p.Phe334Ser
ENST00000378600.7:c.457-2447T>C	ENSP00000367863.3:n.457-2447T>C
ENST00000378601.7:c.*88T>C	ENSP00000367864.3:n.*88T>C
ENST00000378603.7:c.809T>C	ENSP00000367866.3:p.Phe270Ser
ENST00000612309.4:n.2450T>C
ENST00000614394.1:n.391T>C
ENST00000616278.4:c.677T>C	ENSP00000478411.1:n.677T>C
ENST00000617022.4:n.1554-2447T>C
ENST00000617847.4:c.930T>C
ENST00000620515.1:n.167T>C
NM_000107.2:c.1001T>C , LRG_467t1:c.1001T>C	NP_000098.1:p.Phe334Ser
NM_001300734.1:c.457-2447T>C	NP_001287663.1:n.457-2447T>C
XR_242780.3:n.991T>C
XR_242780.4:n.991T>C
NM_000107.3:c.1001T>C MANE Select	NP_000098.1:p.Phe334Ser
NM_001300734.2:c.457-2447T>C	NP_001287663.1:n.457-2447T>C
NM_001399874.1:c.1001T>C	NP_001386803.1:p.Phe334Ser
NM_001399875.1:c.1001T>C	NP_001386804.1:p.Phe334Ser
NM_001399876.1:c.457-2447T>C	NP_001386805.1:n.457-2447T>C
NM_001399878.1:c.809T>C	NP_001386807.1:p.Phe270Ser
NR_174610.1:n.1252T>C
NR_174611.1:n.1230T>C