Canonical Allele Identifier: CA412324556
Gene: TRAPPC2 HGNC NCBI
OFD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.13716040C>A , CM000685.2:g.13716040C>A GRCh38
NC_000023.10:g.13734159C>A , CM000685.1:g.13734159C>A GRCh37
NC_000023.9:g.13644080C>A NCBI36
NG_011555.1:g.23584G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000458511.7:c.288G>T (TRAPPC2) ENSP00000392495.3:p.Lys96Asn
ENST00000518847.2:c.288G>T (TRAPPC2) ENSP00000428900.2:p.Lys96Asn
ENST00000683569.1:c.288G>T (TRAPPC2) ENSP00000508155.1:p.Lys96Asn
ENST00000683983.1:c.390G>T (TRAPPC2) ENSP00000507474.1:p.Lys130Asn
ENST00000380579.6:c.288G>T (TRAPPC2) MANE Select ENSP00000369953.1:p.Lys96Asn
ENST00000359680.9:c.288G>T (TRAPPC2) ENSP00000352708.5:p.Lys96Asn
ENST00000380578.1:n.2565G>T (TRAPPC2)
ENST00000380579.5:c.288G>T (TRAPPC2) ENSP00000369953.1:p.Lys96Asn
ENST00000458511.6:c.390G>T (TRAPPC2) ENSP00000392495.2:p.Lys130Asn
ENST00000517553.1:n.235G>T (TRAPPC2)
ENST00000519382.1:n.908G>T (TRAPPC2)
ENST00000519885.5:c.288G>T (TRAPPC2) ENSP00000430725.1:p.Lys96Asn
NM_001011658.3:c.288G>T (TRAPPC2) NP_001011658.1:p.Lys96Asn
NM_001128835.2:c.390G>T (TRAPPC2) NP_001122307.2:p.Lys130Asn
NM_014563.5:c.288G>T (TRAPPC2) NP_055378.1:p.Lys96Asn
XM_005274599.2:c.33+246C>A (OFD1) XP_005274656.1:n.33+246C>A
XM_005274602.2:c.33+246C>A (OFD1) XP_005274659.1:n.33+246C>A
XM_005274603.2:c.33+246C>A (OFD1) XP_005274660.1:n.33+246C>A
XM_011545565.1:c.288G>T (TRAPPC2) XP_011543867.1:p.Lys96Asn
XM_011545566.1:c.288G>T (TRAPPC2) XP_011543868.1:p.Lys96Asn
XM_011545591.1:c.33+246C>A (OFD1) XP_011543893.1:n.33+246C>A
XM_011545593.1:c.33+246C>A (OFD1) XP_011543895.1:n.33+246C>A
XM_011545596.1:c.33+246C>A (OFD1) XP_011543898.1:n.33+246C>A
XR_247288.2:n.372+246C>A (OFD1)
XM_011545566.2:c.288G>T (TRAPPC2) XP_011543868.1:p.Lys96Asn
NM_001011658.4:c.288G>T (TRAPPC2) MANE Select NP_001011658.1:p.Lys96Asn
NM_001128835.3:c.390G>T (TRAPPC2) NP_001122307.2:p.Lys130Asn
NM_014563.6:c.288G>T (TRAPPC2) NP_055378.1:p.Lys96Asn