Canonical Allele Identifier: CA370813908
Gene: EPHX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27516348G>C , CM000670.2:g.27516348G>C GRCh38
NC_000008.10:g.27373865G>C , CM000670.1:g.27373865G>C GRCh37
NC_000008.9:g.27429782G>C NCBI36
NG_012064.1:g.30221G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000521400.6:c.860G>C MANE Select ENSP00000430269.1:p.Arg287Pro
ENST00000380476.7:c.701G>C ENSP00000369843.3:p.Arg234Pro
ENST00000517536.5:c.311G>C ENSP00000428875.1:p.Arg104Pro
ENST00000518379.5:c.764G>C ENSP00000427956.1:p.Arg255Pro
ENST00000520623.5:n.944G>C
ENST00000521400.5:c.860G>C ENSP00000430269.1:p.Arg287Pro
ENST00000521684.1:c.736G>C
ENST00000521780.5:c.662G>C ENSP00000430302.1:p.Arg221Pro
ENST00000523326.1:n.380G>C
NM_001256482.1:c.701G>C NP_001243411.1:p.Arg234Pro
NM_001256483.1:c.662G>C NP_001243412.1:p.Arg221Pro
NM_001256484.1:c.701G>C NP_001243413.1:p.Arg234Pro
NM_001979.5:c.860G>C NP_001970.2:p.Arg287Pro
XM_017013199.1:c.737G>C XP_016868688.1:p.Arg246Pro
XR_001745491.1:n.918G>C
NM_001256482.2:c.701G>C NP_001243411.1:p.Arg234Pro
NM_001256483.2:c.662G>C NP_001243412.1:p.Arg221Pro
NM_001256484.2:c.701G>C NP_001243413.1:p.Arg234Pro
NM_001979.6:c.860G>C MANE Select NP_001970.2:p.Arg287Pro