Canonical Allele Identifier: CA255912
Gene: TRAPPC2 HGNC NCBI
OFD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 11513
dbSNP Id: rs104894948

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.13716080A>G , CM000685.2:g.13716080A>G GRCh38
NC_000023.10:g.13734199A>G , CM000685.1:g.13734199A>G GRCh37
NC_000023.9:g.13644120A>G NCBI36
NG_011555.1:g.23544T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000458511.7:c.248T>C (TRAPPC2) ENSP00000392495.3:p.Phe83Ser
ENST00000518847.2:c.248T>C (TRAPPC2) ENSP00000428900.2:p.Phe83Ser
ENST00000683569.1:c.248T>C (TRAPPC2) ENSP00000508155.1:p.Phe83Ser
ENST00000683983.1:c.350T>C (TRAPPC2) ENSP00000507474.1:p.Phe117Ser
ENST00000380579.6:c.248T>C (TRAPPC2) MANE Select ENSP00000369953.1:p.Phe83Ser
ENST00000359680.9:c.248T>C (TRAPPC2) ENSP00000352708.5:p.Phe83Ser
ENST00000380578.1:n.2525T>C (TRAPPC2)
ENST00000380579.5:c.248T>C (TRAPPC2) ENSP00000369953.1:p.Phe83Ser
ENST00000458511.6:c.350T>C (TRAPPC2) ENSP00000392495.2:p.Phe117Ser
ENST00000517553.1:n.195T>C (TRAPPC2)
ENST00000519382.1:n.868T>C (TRAPPC2)
ENST00000519885.5:c.248T>C (TRAPPC2) ENSP00000430725.1:p.Phe83Ser
NM_001011658.3:c.248T>C (TRAPPC2) NP_001011658.1:p.Phe83Ser
NM_001128835.2:c.350T>C (TRAPPC2) NP_001122307.2:p.Phe117Ser
NM_014563.5:c.248T>C (TRAPPC2) NP_055378.1:p.Phe83Ser
XM_005274599.2:c.33+286A>G (OFD1) XP_005274656.1:n.33+286A>G
XM_005274602.2:c.33+286A>G (OFD1) XP_005274659.1:n.33+286A>G
XM_005274603.2:c.33+286A>G (OFD1) XP_005274660.1:n.33+286A>G
XM_011545565.1:c.248T>C (TRAPPC2) XP_011543867.1:p.Phe83Ser
XM_011545566.1:c.248T>C (TRAPPC2) XP_011543868.1:p.Phe83Ser
XM_011545591.1:c.33+286A>G (OFD1) XP_011543893.1:n.33+286A>G
XM_011545593.1:c.33+286A>G (OFD1) XP_011543895.1:n.33+286A>G
XM_011545596.1:c.33+286A>G (OFD1) XP_011543898.1:n.33+286A>G
XR_247288.2:n.372+286A>G (OFD1)
XM_011545566.2:c.248T>C (TRAPPC2) XP_011543868.1:p.Phe83Ser
NM_001011658.4:c.248T>C (TRAPPC2) MANE Select NP_001011658.1:p.Phe83Ser
NM_001128835.3:c.350T>C (TRAPPC2) NP_001122307.2:p.Phe117Ser
NM_014563.6:c.248T>C (TRAPPC2) NP_055378.1:p.Phe83Ser