Canonical Allele Identifier: CA460046994
Gene: EPHX2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.27358452G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27500935G>T , CM000670.2:g.27500935G>T GRCh38
NC_000008.10:g.27358452G>T , CM000670.1:g.27358452G>T GRCh37
NC_000008.9:g.27414369G>T NCBI36
NG_012064.1:g.14808G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000521400.6:c.111G>T MANE Select ENSP00000430269.1:p.Leu37=
ENST00000380476.7:c.-20-29G>T ENSP00000369843.3:n.-20-29G>T
ENST00000517536.5:c.111G>T ENSP00000428875.1:p.Leu37=
ENST00000518328.5:c.111G>T ENSP00000430779.1:p.Leu37=
ENST00000518379.5:c.111G>T ENSP00000427956.1:p.Leu37=
ENST00000520623.5:n.195G>T
ENST00000520666.1:n.123G>T
ENST00000521400.5:c.111G>T ENSP00000430269.1:p.Leu37=
ENST00000521684.1:c.110G>T
ENST00000521780.5:c.-12-2669G>T ENSP00000430302.1:n.-12-2669G>T
ENST00000523827.1:n.334G>T
NM_001256482.1:c.-20-29G>T NP_001243411.1:n.-20-29G>T
NM_001256483.1:c.-12-2669G>T NP_001243412.1:n.-12-2669G>T
NM_001256484.1:c.-49G>T NP_001243413.1:n.-49G>T
NM_001979.5:c.111G>T NP_001970.2:p.Leu37=
XM_017013199.1:c.111G>T XP_016868688.1:p.Leu37=
XM_017013200.1:c.111G>T XP_016868689.1:p.Leu37=
XR_001745491.1:n.169G>T
NM_001256482.2:c.-20-29G>T NP_001243411.1:n.-20-29G>T
NM_001256483.2:c.-12-2669G>T NP_001243412.1:n.-12-2669G>T
NM_001256484.2:c.-49G>T NP_001243413.1:n.-49G>T
NM_001979.6:c.111G>T MANE Select NP_001970.2:p.Leu37=