Canonical Allele Identifier: CA1131188134

Gene: TRAPPC2 OFD1

Linked Data

• dbSNP Id: rs2046276193
• gnomAD v3: X-13715883-TG-T
• gnomAD v4: X-13715883-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13715888del , CM000685.2:g.13715888del	GRCh38
NC_000023.10:g.13734007del , CM000685.1:g.13734007del	GRCh37
NC_000023.9:g.13643928del	NCBI36
NG_011555.1:g.23740del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000458511.7:c.324+120del (TRAPPC2)	ENSP00000392495.3:n.324+120del
ENST00000518847.2:c.324+120del (TRAPPC2)	ENSP00000428900.2:n.324+120del
ENST00000683569.1:c.324+120del (TRAPPC2)	ENSP00000508155.1:n.324+120del
ENST00000683983.1:c.426+120del (TRAPPC2)	ENSP00000507474.1:n.426+120del
ENST00000380579.6:c.324+120del (TRAPPC2) MANE Select	ENSP00000369953.1:n.324+120del
ENST00000359680.9:c.324+120del (TRAPPC2)	ENSP00000352708.5:n.324+120del
ENST00000380578.1:n.2721del (TRAPPC2)
ENST00000380579.5:c.324+120del (TRAPPC2)	ENSP00000369953.1:n.324+120del
ENST00000458511.6:c.426+120del (TRAPPC2)	ENSP00000392495.2:n.426+120del
ENST00000517553.1:n.391del (TRAPPC2)
ENST00000519382.1:n.1064del (TRAPPC2)
ENST00000519885.5:c.*102del (TRAPPC2)	ENSP00000430725.1:n.*102del
NM_001011658.3:c.324+120del (TRAPPC2)	NP_001011658.1:n.324+120del
NM_001128835.2:c.426+120del (TRAPPC2)	NP_001122307.2:n.426+120del
NM_014563.5:c.324+120del (TRAPPC2)	NP_055378.1:n.324+120del
XM_005274599.2:c.33+94del (OFD1)	XP_005274656.1:n.33+94del
XM_005274602.2:c.33+94del (OFD1)	XP_005274659.1:n.33+94del
XM_005274603.2:c.33+94del (OFD1)	XP_005274660.1:n.33+94del
XM_011545565.1:c.324+120del (TRAPPC2)	XP_011543867.1:n.324+120del
XM_011545566.1:c.324+120del (TRAPPC2)	XP_011543868.1:n.324+120del
XM_011545591.1:c.33+94del (OFD1)	XP_011543893.1:n.33+94del
XM_011545593.1:c.33+94del (OFD1)	XP_011543895.1:n.33+94del
XM_011545596.1:c.33+94del (OFD1)	XP_011543898.1:n.33+94del
XR_247288.2:n.372+94del (OFD1)
XM_011545566.2:c.324+120del (TRAPPC2)	XP_011543868.1:n.324+120del
NM_001011658.4:c.324+120del (TRAPPC2) MANE Select	NP_001011658.1:n.324+120del
NM_001128835.3:c.426+120del (TRAPPC2)	NP_001122307.2:n.426+120del
NM_014563.6:c.324+120del (TRAPPC2)	NP_055378.1:n.324+120del