Canonical Allele Identifier: CA1969296279
Community Standard Title: NM_000107.3(DDB2):c.640C= (p.Arg214=)
Gene: DDB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47234610C= , CM000673.2:g.47234610C= GRCh38
NC_000011.9:g.47256161C= , CM000673.1:g.47256161C= GRCh37
NC_000011.8:g.47212737C= NCBI36
NG_009365.1:g.24669C= , LRG_467:g.24669C=

Transcript Alleles

HGVS Amino-acid Change
NM_000107.3:c.640C= MANE Select NP_000098.1:p.Arg214=
ENST00000256996.9:c.640C= MANE Select ENSP00000256996.4:p.Arg214=
NM_000107.2:c.640C= , LRG_467t1:c.640C= NP_000098.1:p.Arg214=
NM_001300734.1:c.457-3227C= NP_001287663.1:n.457-3227C=
NM_001300734.2:c.457-3227C= NP_001287663.1:n.457-3227C=
NM_001399874.1:c.640C= NP_001386803.1:p.Arg214=
NM_001399875.1:c.640C= NP_001386804.1:p.Arg214=
NM_001399876.1:c.457-3227C= NP_001386805.1:n.457-3227C=
NM_001399878.1:c.448C= NP_001386807.1:p.Arg150=
NR_174610.1:n.1069C=
NR_174611.1:n.927C=
ENST00000256996.8:c.640C= ENSP00000256996.3:p.Arg214=
ENST00000378600.7:c.457-3227C= ENSP00000367863.3:n.457-3227C=
ENST00000378601.7:c.640C= ENSP00000367864.3:p.Arg214=
ENST00000378603.7:c.448C= ENSP00000367866.3:p.Arg150=
ENST00000612309.4:n.1754C=
ENST00000614394.1:n.30C=
ENST00000614825.4:c.640C= ENSP00000483718.1:p.Arg214=
ENST00000616278.4:c.494C= ENSP00000478411.1:n.494C=
ENST00000617022.4:n.1554-3227C=
ENST00000617847.4:c.569C=
XR_242780.3:n.808C=
XR_242780.4:n.808C=