Canonical Allele Identifier: CA415067286

Gene: TREX2 HAUS7

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153456596G>T , CM000685.2:g.153456596G>T	GRCh38
NC_000023.10:g.152722054G>T , CM000685.1:g.152722054G>T	GRCh37
NC_000023.9:g.152375248G>T	NCBI36
NG_012688.2:g.43930C>A
NG_012688.3:g.43930C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001385482.1:c.502C>A (HAUS7) MANE Select	NP_001372411.1:p.Leu168Ile
ENST00000370211.10:c.502C>A (HAUS7) MANE Select	ENSP00000359230.6:p.Leu168Ile
NM_001385481.1:c.502C>A (HAUS7)	NP_001372410.1:p.Leu168Ile
NM_001385483.1:c.502C>A (HAUS7)	NP_001372412.1:p.Leu168Ile
NM_017518.7:c.532C>A (HAUS7)	NP_059988.3:p.Leu178Ile
NR_073156.1:n.1287C>A (HAUS7)
NR_073156.2:n.1227C>A (HAUS7)
NR_169630.1:n.521C>A (HAUS7)
NR_169631.1:n.1182C>A (HAUS7)
ENST00000330912.6:c.-1020C>A (TREX2)	ENSP00000333441.2:n.-1020C>A
ENST00000330912.7:c.-1020C>A (TREX2)	ENSP00000333441.2:n.-1020C>A
ENST00000334497.6:c.-611C>A (TREX2)	ENSP00000334993.2:n.-611C>A
ENST00000334497.7:c.-611C>A (TREX2)	ENSP00000334993.2:n.-611C>A
ENST00000338525.6:c.-874C>A (TREX2)	ENSP00000345218.2:n.-874C>A
ENST00000338525.7:c.-874C>A (TREX2)	ENSP00000345218.2:n.-874C>A
ENST00000370211.8:c.532C>A (HAUS7)	ENSP00000359230.5:p.Leu178Ile
ENST00000370211.9:c.502C>A (HAUS7)	ENSP00000359230.6:p.Leu168Ile
ENST00000370232.3:c.-493C>A (TREX2)	ENSP00000359252.1:n.-493C>A
ENST00000370232.4:c.-493C>A (TREX2)	ENSP00000359252.1:n.-493C>A
ENST00000484394.5:n.111C>A (HAUS7)
ENST00000490165.5:n.430C>A (HAUS7)
ENST00000490453.5:n.483C>A (HAUS7)
ENST00000491286.5:n.82C>A (HAUS7)