Canonical Allele Identifier: CA370804691
Gene: EPHX2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27500973C>A , CM000670.2:g.27500973C>A GRCh38
NC_000008.10:g.27358490C>A , CM000670.1:g.27358490C>A GRCh37
NC_000008.9:g.27414407C>A NCBI36
NG_012064.1:g.14846C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000521400.6:c.149C>A MANE Select ENSP00000430269.1:p.Thr50Asn
ENST00000380476.7:c.-11C>A ENSP00000369843.3:n.-11C>A
ENST00000517536.5:c.149C>A ENSP00000428875.1:p.Thr50Asn
ENST00000518328.5:c.149C>A ENSP00000430779.1:p.Thr50Asn
ENST00000518379.5:c.149C>A ENSP00000427956.1:p.Thr50Asn
ENST00000520623.5:n.233C>A
ENST00000520666.1:n.161C>A
ENST00000521400.5:c.149C>A ENSP00000430269.1:p.Thr50Asn
ENST00000521684.1:c.148C>A
ENST00000521780.5:c.-12-2631C>A ENSP00000430302.1:n.-12-2631C>A
ENST00000523827.1:n.372C>A
NM_001256482.1:c.-11C>A NP_001243411.1:n.-11C>A
NM_001256483.1:c.-12-2631C>A NP_001243412.1:n.-12-2631C>A
NM_001256484.1:c.-11C>A NP_001243413.1:n.-11C>A
NM_001979.5:c.149C>A NP_001970.2:p.Thr50Asn
XM_017013199.1:c.149C>A XP_016868688.1:p.Thr50Asn
XM_017013200.1:c.149C>A XP_016868689.1:p.Thr50Asn
XR_001745491.1:n.207C>A
NM_001256482.2:c.-11C>A NP_001243411.1:n.-11C>A
NM_001256483.2:c.-12-2631C>A NP_001243412.1:n.-12-2631C>A
NM_001256484.2:c.-11C>A NP_001243413.1:n.-11C>A
NM_001979.6:c.149C>A MANE Select NP_001970.2:p.Thr50Asn