Canonical Allele Identifier: CA2499223105
Community Standard Title: NM_144572.2(TBC1D2B):c.426dup (p.Asn143Ter)
Gene: TBC1D2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78054122dup , CM000677.2:g.78054122dup GRCh38
NC_000015.9:g.78346464dup , CM000677.1:g.78346464dup GRCh37
NC_000015.8:g.76133519dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_144572.2:c.426dup MANE Select NP_653173.1:p.Asn143Ter
ENST00000300584.8:c.426dup MANE Select ENSP00000300584.3:p.Asn143Ter
NM_001387142.1:c.426dup NP_001374071.1:p.Asn143Ter
NM_001387143.1:c.426dup NP_001374072.1:p.Asn143Ter
NM_001387144.1:c.426dup NP_001374073.1:p.Asn143Ter
NM_001387145.1:c.90dup NP_001374074.1:p.Asn31Ter
NM_001387146.1:c.90dup NP_001374075.1:p.Asn31Ter
NM_001387147.1:c.90dup NP_001374076.1:p.Asn31Ter
NM_001387148.1:c.90dup NP_001374077.1:p.Asn31Ter
NM_001387149.1:c.90dup NP_001374078.1:p.Asn31Ter
NM_015079.5:c.426dup NP_055894.6:p.Asn143Ter
NM_015079.6:c.426dup NP_055894.6:p.Asn143Ter
NM_144572.1:c.426dup NP_653173.1:p.Asn143Ter
ENST00000300584.7:c.426dup ENSP00000300584.3:p.Asn143Ter
ENST00000409931.7:c.426dup ENSP00000387165.3:p.Asn143Ter
ENST00000435468.1:c.90dup ENSP00000413666.1:p.Asn31Ter
XM_011521387.1:c.426dup XP_011519689.1:p.Asn143Ter
XM_011521387.2:c.426dup XP_011519689.1:p.Asn143Ter
XM_011521388.1:c.426dup XP_011519690.1:p.Asn143Ter
XM_017022022.1:c.-410dup XP_016877511.1:n.-410dup
XR_001751162.1:n.482dup
XR_001751163.1:n.482dup