Canonical Allele Identifier: CA4689892
Gene: EPHX2 HGNC NCBI

Linked Data

dbSNP Id: rs748687158
gnomAD v2: 8-27358446-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27500929A>G , CM000670.2:g.27500929A>G GRCh38
NC_000008.10:g.27358446A>G , CM000670.1:g.27358446A>G GRCh37
NC_000008.9:g.27414363A>G NCBI36
NG_012064.1:g.14802A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000521400.6:c.105A>G MANE Select ENSP00000430269.1:p.Gly35=
ENST00000380476.7:c.-20-35A>G ENSP00000369843.3:n.-20-35A>G
ENST00000517536.5:c.105A>G ENSP00000428875.1:p.Gly35=
ENST00000518328.5:c.105A>G ENSP00000430779.1:p.Gly35=
ENST00000518379.5:c.105A>G ENSP00000427956.1:p.Gly35=
ENST00000520623.5:n.189A>G
ENST00000520666.1:n.117A>G
ENST00000521400.5:c.105A>G ENSP00000430269.1:p.Gly35=
ENST00000521684.1:c.104A>G
ENST00000521780.5:c.-12-2675A>G ENSP00000430302.1:n.-12-2675A>G
ENST00000523827.1:n.328A>G
NM_001256482.1:c.-20-35A>G NP_001243411.1:n.-20-35A>G
NM_001256483.1:c.-12-2675A>G NP_001243412.1:n.-12-2675A>G
NM_001256484.1:c.-55A>G NP_001243413.1:n.-55A>G
NM_001979.5:c.105A>G NP_001970.2:p.Gly35=
XM_017013199.1:c.105A>G XP_016868688.1:p.Gly35=
XM_017013200.1:c.105A>G XP_016868689.1:p.Gly35=
XR_001745491.1:n.163A>G
NM_001256482.2:c.-20-35A>G NP_001243411.1:n.-20-35A>G
NM_001256483.2:c.-12-2675A>G NP_001243412.1:n.-12-2675A>G
NM_001256484.2:c.-55A>G NP_001243413.1:n.-55A>G
NM_001979.6:c.105A>G MANE Select NP_001970.2:p.Gly35=