Canonical Allele Identifier: CA412325252

Gene: TRAPPC2 OFD1

Linked Data

• dbSNP Id: rs1388610068
• gnomAD v3: X-13716089-T-C
• gnomAD v4: X-13716089-T-C
• MyVariant Identifiers: chrX:g.13734208T>C (hg19) ; chrX:g.13716089T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13716089T>C , CM000685.2:g.13716089T>C	GRCh38
NC_000023.10:g.13734208T>C , CM000685.1:g.13734208T>C	GRCh37
NC_000023.9:g.13644129T>C	NCBI36
NG_011555.1:g.23535A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000458511.7:c.239A>G (TRAPPC2)	ENSP00000392495.3:p.His80Arg
ENST00000518847.2:c.239A>G (TRAPPC2)	ENSP00000428900.2:p.His80Arg
ENST00000683569.1:c.239A>G (TRAPPC2)	ENSP00000508155.1:p.His80Arg
ENST00000683983.1:c.341A>G (TRAPPC2)	ENSP00000507474.1:p.His114Arg
ENST00000380579.6:c.239A>G (TRAPPC2) MANE Select	ENSP00000369953.1:p.His80Arg
ENST00000359680.9:c.239A>G (TRAPPC2)	ENSP00000352708.5:p.His80Arg
ENST00000380578.1:n.2516A>G (TRAPPC2)
ENST00000380579.5:c.239A>G (TRAPPC2)	ENSP00000369953.1:p.His80Arg
ENST00000458511.6:c.341A>G (TRAPPC2)	ENSP00000392495.2:p.His114Arg
ENST00000517553.1:n.186A>G (TRAPPC2)
ENST00000519382.1:n.859A>G (TRAPPC2)
ENST00000519885.5:c.239A>G (TRAPPC2)	ENSP00000430725.1:p.His80Arg
NM_001011658.3:c.239A>G (TRAPPC2)	NP_001011658.1:p.His80Arg
NM_001128835.2:c.341A>G (TRAPPC2)	NP_001122307.2:p.His114Arg
NM_014563.5:c.239A>G (TRAPPC2)	NP_055378.1:p.His80Arg
XM_005274599.2:c.33+295T>C (OFD1)	XP_005274656.1:n.33+295T>C
XM_005274602.2:c.33+295T>C (OFD1)	XP_005274659.1:n.33+295T>C
XM_005274603.2:c.33+295T>C (OFD1)	XP_005274660.1:n.33+295T>C
XM_011545565.1:c.239A>G (TRAPPC2)	XP_011543867.1:p.His80Arg
XM_011545566.1:c.239A>G (TRAPPC2)	XP_011543868.1:p.His80Arg
XM_011545591.1:c.33+295T>C (OFD1)	XP_011543893.1:n.33+295T>C
XM_011545593.1:c.33+295T>C (OFD1)	XP_011543895.1:n.33+295T>C
XM_011545596.1:c.33+295T>C (OFD1)	XP_011543898.1:n.33+295T>C
XR_247288.2:n.372+295T>C (OFD1)
XM_011545566.2:c.239A>G (TRAPPC2)	XP_011543868.1:p.His80Arg
NM_001011658.4:c.239A>G (TRAPPC2) MANE Select	NP_001011658.1:p.His80Arg
NM_001128835.3:c.341A>G (TRAPPC2)	NP_001122307.2:p.His114Arg
NM_014563.6:c.239A>G (TRAPPC2)	NP_055378.1:p.His80Arg