Canonical Allele Identifier: CA1772845581
Gene: EPHX2 HGNC NCBI

Linked Data

dbSNP Id: rs1813751283
gnomAD v4: 8-27501073-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27501073C>G , CM000670.2:g.27501073C>G GRCh38
NC_000008.10:g.27358590C>G , CM000670.1:g.27358590C>G GRCh37
NC_000008.9:g.27414507C>G NCBI36
NG_012064.1:g.14946C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000521400.6:c.186+63C>G MANE Select ENSP00000430269.1:n.186+63C>G
ENST00000380476.7:c.27+63C>G ENSP00000369843.3:n.27+63C>G
ENST00000517536.5:c.186+63C>G ENSP00000428875.1:n.186+63C>G
ENST00000518328.5:c.186+63C>G ENSP00000430779.1:n.186+63C>G
ENST00000518379.5:c.186+63C>G ENSP00000427956.1:n.186+63C>G
ENST00000520623.5:n.270+63C>G
ENST00000520666.1:n.198+63C>G
ENST00000521400.5:c.186+63C>G ENSP00000430269.1:n.186+63C>G
ENST00000521684.1:c.185+63C>G
ENST00000521780.5:c.-12-2531C>G ENSP00000430302.1:n.-12-2531C>G
ENST00000523827.1:n.409+63C>G
NM_001256482.1:c.27+63C>G NP_001243411.1:n.27+63C>G
NM_001256483.1:c.-12-2531C>G NP_001243412.1:n.-12-2531C>G
NM_001256484.1:c.27+63C>G NP_001243413.1:n.27+63C>G
NM_001979.5:c.186+63C>G NP_001970.2:n.186+63C>G
XM_017013199.1:c.186+63C>G XP_016868688.1:n.186+63C>G
XM_017013200.1:c.186+63C>G XP_016868689.1:n.186+63C>G
XR_001745491.1:n.244+63C>G
NM_001256482.2:c.27+63C>G NP_001243411.1:n.27+63C>G
NM_001256483.2:c.-12-2531C>G NP_001243412.1:n.-12-2531C>G
NM_001256484.2:c.27+63C>G NP_001243413.1:n.27+63C>G
NM_001979.6:c.186+63C>G MANE Select NP_001970.2:n.186+63C>G