Canonical Allele Identifier: CA370804614
Gene: EPHX2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27500948C>G , CM000670.2:g.27500948C>G GRCh38
NC_000008.10:g.27358465C>G , CM000670.1:g.27358465C>G GRCh37
NC_000008.9:g.27414382C>G NCBI36
NG_012064.1:g.14821C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000521400.6:c.124C>G MANE Select ENSP00000430269.1:p.Gln42Glu
ENST00000380476.7:c.-20-16C>G ENSP00000369843.3:n.-20-16C>G
ENST00000517536.5:c.124C>G ENSP00000428875.1:p.Gln42Glu
ENST00000518328.5:c.124C>G ENSP00000430779.1:p.Gln42Glu
ENST00000518379.5:c.124C>G ENSP00000427956.1:p.Gln42Glu
ENST00000520623.5:n.208C>G
ENST00000520666.1:n.136C>G
ENST00000521400.5:c.124C>G ENSP00000430269.1:p.Gln42Glu
ENST00000521684.1:c.123C>G
ENST00000521780.5:c.-12-2656C>G ENSP00000430302.1:n.-12-2656C>G
ENST00000523827.1:n.347C>G
NM_001256482.1:c.-20-16C>G NP_001243411.1:n.-20-16C>G
NM_001256483.1:c.-12-2656C>G NP_001243412.1:n.-12-2656C>G
NM_001256484.1:c.-36C>G NP_001243413.1:n.-36C>G
NM_001979.5:c.124C>G NP_001970.2:p.Gln42Glu
XM_017013199.1:c.124C>G XP_016868688.1:p.Gln42Glu
XM_017013200.1:c.124C>G XP_016868689.1:p.Gln42Glu
XR_001745491.1:n.182C>G
NM_001256482.2:c.-20-16C>G NP_001243411.1:n.-20-16C>G
NM_001256483.2:c.-12-2656C>G NP_001243412.1:n.-12-2656C>G
NM_001256484.2:c.-36C>G NP_001243413.1:n.-36C>G
NM_001979.6:c.124C>G MANE Select NP_001970.2:p.Gln42Glu