Canonical Allele Identifier: CA850410075
Gene: EPHX2 HGNC NCBI

Linked Data

dbSNP Id: rs1257620911
gnomAD v3: 8-27501119-G-A
gnomAD v4: 8-27501119-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27501119G>A , CM000670.2:g.27501119G>A GRCh38
NC_000008.10:g.27358636G>A , CM000670.1:g.27358636G>A GRCh37
NC_000008.9:g.27414553G>A NCBI36
NG_012064.1:g.14992G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000521400.6:c.186+109G>A MANE Select ENSP00000430269.1:n.186+109G>A
ENST00000380476.7:c.27+109G>A ENSP00000369843.3:n.27+109G>A
ENST00000517536.5:c.186+109G>A ENSP00000428875.1:n.186+109G>A
ENST00000518328.5:c.186+109G>A ENSP00000430779.1:n.186+109G>A
ENST00000518379.5:c.186+109G>A ENSP00000427956.1:n.186+109G>A
ENST00000520623.5:n.270+109G>A
ENST00000520666.1:n.198+109G>A
ENST00000521400.5:c.186+109G>A ENSP00000430269.1:n.186+109G>A
ENST00000521684.1:c.185+109G>A
ENST00000521780.5:c.-12-2485G>A ENSP00000430302.1:n.-12-2485G>A
ENST00000523827.1:n.409+109G>A
NM_001256482.1:c.27+109G>A NP_001243411.1:n.27+109G>A
NM_001256483.1:c.-12-2485G>A NP_001243412.1:n.-12-2485G>A
NM_001256484.1:c.27+109G>A NP_001243413.1:n.27+109G>A
NM_001979.5:c.186+109G>A NP_001970.2:n.186+109G>A
XM_017013199.1:c.186+109G>A XP_016868688.1:n.186+109G>A
XM_017013200.1:c.186+109G>A XP_016868689.1:n.186+109G>A
XR_001745491.1:n.244+109G>A
NM_001256482.2:c.27+109G>A NP_001243411.1:n.27+109G>A
NM_001256483.2:c.-12-2485G>A NP_001243412.1:n.-12-2485G>A
NM_001256484.2:c.27+109G>A NP_001243413.1:n.27+109G>A
NM_001979.6:c.186+109G>A MANE Select NP_001970.2:n.186+109G>A