Canonical Allele Identifier: CA412323899

Gene: TRAPPC2 OFD1

Linked Data

• dbSNP Id: rs2046278832
• gnomAD v3: X-13715994-C-T
• gnomAD v4: X-13715994-C-T
• MyVariant Identifiers: chrX:g.13734113C>T (hg19) ; chrX:g.13715994C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13715994C>T , CM000685.2:g.13715994C>T	GRCh38
NC_000023.10:g.13734113C>T , CM000685.1:g.13734113C>T	GRCh37
NC_000023.9:g.13644034C>T	NCBI36
NG_011555.1:g.23630G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000458511.7:c.324+10G>A (TRAPPC2)	ENSP00000392495.3:n.324+10G>A
ENST00000518847.2:c.324+10G>A (TRAPPC2)	ENSP00000428900.2:n.324+10G>A
ENST00000683569.1:c.324+10G>A (TRAPPC2)	ENSP00000508155.1:n.324+10G>A
ENST00000683983.1:c.426+10G>A (TRAPPC2)	ENSP00000507474.1:n.426+10G>A
ENST00000380579.6:c.324+10G>A (TRAPPC2) MANE Select	ENSP00000369953.1:n.324+10G>A
ENST00000359680.9:c.324+10G>A (TRAPPC2)	ENSP00000352708.5:n.324+10G>A
ENST00000380578.1:n.2611G>A (TRAPPC2)
ENST00000380579.5:c.324+10G>A (TRAPPC2)	ENSP00000369953.1:n.324+10G>A
ENST00000458511.6:c.426+10G>A (TRAPPC2)	ENSP00000392495.2:n.426+10G>A
ENST00000517553.1:n.281G>A (TRAPPC2)
ENST00000519382.1:n.954G>A (TRAPPC2)
ENST00000519885.5:c.334G>A (TRAPPC2)	ENSP00000430725.1:p.Val112Ile
NM_001011658.3:c.324+10G>A (TRAPPC2)	NP_001011658.1:n.324+10G>A
NM_001128835.2:c.426+10G>A (TRAPPC2)	NP_001122307.2:n.426+10G>A
NM_014563.5:c.324+10G>A (TRAPPC2)	NP_055378.1:n.324+10G>A
XM_005274599.2:c.33+200C>T (OFD1)	XP_005274656.1:n.33+200C>T
XM_005274602.2:c.33+200C>T (OFD1)	XP_005274659.1:n.33+200C>T
XM_005274603.2:c.33+200C>T (OFD1)	XP_005274660.1:n.33+200C>T
XM_011545565.1:c.324+10G>A (TRAPPC2)	XP_011543867.1:n.324+10G>A
XM_011545566.1:c.324+10G>A (TRAPPC2)	XP_011543868.1:n.324+10G>A
XM_011545591.1:c.33+200C>T (OFD1)	XP_011543893.1:n.33+200C>T
XM_011545593.1:c.33+200C>T (OFD1)	XP_011543895.1:n.33+200C>T
XM_011545596.1:c.33+200C>T (OFD1)	XP_011543898.1:n.33+200C>T
XR_247288.2:n.372+200C>T (OFD1)
XM_011545566.2:c.324+10G>A (TRAPPC2)	XP_011543868.1:n.324+10G>A
NM_001011658.4:c.324+10G>A (TRAPPC2) MANE Select	NP_001011658.1:n.324+10G>A
NM_001128835.3:c.426+10G>A (TRAPPC2)	NP_001122307.2:n.426+10G>A
NM_014563.6:c.324+10G>A (TRAPPC2)	NP_055378.1:n.324+10G>A