Canonical Allele Identifier: CA174228240
Gene: EPHX2 HGNC NCBI

Linked Data

dbSNP Id: rs371491337
gnomAD v2: 8-27358389-G-A
gnomAD v3: 8-27500872-G-A
gnomAD v4: 8-27500872-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27500872G>A , CM000670.2:g.27500872G>A GRCh38
NC_000008.10:g.27358389G>A , CM000670.1:g.27358389G>A GRCh37
NC_000008.9:g.27414306G>A NCBI36
NG_012064.1:g.14745G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000521400.6:c.102-54G>A MANE Select ENSP00000430269.1:n.102-54G>A
ENST00000380476.7:c.-20-92G>A ENSP00000369843.3:n.-20-92G>A
ENST00000517536.5:c.102-54G>A ENSP00000428875.1:n.102-54G>A
ENST00000518328.5:c.102-54G>A ENSP00000430779.1:n.102-54G>A
ENST00000518379.5:c.102-54G>A ENSP00000427956.1:n.102-54G>A
ENST00000520623.5:n.186-54G>A
ENST00000520666.1:n.116-56G>A
ENST00000521400.5:c.102-54G>A ENSP00000430269.1:n.102-54G>A
ENST00000521684.1:c.101-54G>A
ENST00000521780.5:c.-12-2732G>A ENSP00000430302.1:n.-12-2732G>A
ENST00000523827.1:n.325-54G>A
NM_001256482.1:c.-20-92G>A NP_001243411.1:n.-20-92G>A
NM_001256483.1:c.-12-2732G>A NP_001243412.1:n.-12-2732G>A
NM_001256484.1:c.-56-56G>A NP_001243413.1:n.-56-56G>A
NM_001979.5:c.102-54G>A NP_001970.2:n.102-54G>A
XM_017013199.1:c.102-54G>A XP_016868688.1:n.102-54G>A
XM_017013200.1:c.102-54G>A XP_016868689.1:n.102-54G>A
XR_001745491.1:n.160-54G>A
NM_001256482.2:c.-20-92G>A NP_001243411.1:n.-20-92G>A
NM_001256483.2:c.-12-2732G>A NP_001243412.1:n.-12-2732G>A
NM_001256484.2:c.-56-56G>A NP_001243413.1:n.-56-56G>A
NM_001979.6:c.102-54G>A MANE Select NP_001970.2:n.102-54G>A