Canonical Allele Identifier: CA4689893

Gene: EPHX2

Linked Data

• dbSNP Id: rs377050303
• ExAC: 8:27358448 T / C
• gnomAD v2: 8-27358448-T-C
• gnomAD v4: 8-27500931-T-C
• MyVariant Identifiers: chr8:g.27358448T>C (hg19) ; chr8:g.27500931T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27500931T>C , CM000670.2:g.27500931T>C	GRCh38
NC_000008.10:g.27358448T>C , CM000670.1:g.27358448T>C	GRCh37
NC_000008.9:g.27414365T>C	NCBI36
NG_012064.1:g.14804T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521400.6:c.107T>C MANE Select	ENSP00000430269.1:p.Leu36Pro
ENST00000380476.7:c.-20-33T>C	ENSP00000369843.3:n.-20-33T>C
ENST00000517536.5:c.107T>C	ENSP00000428875.1:p.Leu36Pro
ENST00000518328.5:c.107T>C	ENSP00000430779.1:p.Leu36Pro
ENST00000518379.5:c.107T>C	ENSP00000427956.1:p.Leu36Pro
ENST00000520623.5:n.191T>C
ENST00000520666.1:n.119T>C
ENST00000521400.5:c.107T>C	ENSP00000430269.1:p.Leu36Pro
ENST00000521684.1:c.106T>C
ENST00000521780.5:c.-12-2673T>C	ENSP00000430302.1:n.-12-2673T>C
ENST00000523827.1:n.330T>C
NM_001256482.1:c.-20-33T>C	NP_001243411.1:n.-20-33T>C
NM_001256483.1:c.-12-2673T>C	NP_001243412.1:n.-12-2673T>C
NM_001256484.1:c.-53T>C	NP_001243413.1:n.-53T>C
NM_001979.5:c.107T>C	NP_001970.2:p.Leu36Pro
XM_017013199.1:c.107T>C	XP_016868688.1:p.Leu36Pro
XM_017013200.1:c.107T>C	XP_016868689.1:p.Leu36Pro
XR_001745491.1:n.165T>C
NM_001256482.2:c.-20-33T>C	NP_001243411.1:n.-20-33T>C
NM_001256483.2:c.-12-2673T>C	NP_001243412.1:n.-12-2673T>C
NM_001256484.2:c.-53T>C	NP_001243413.1:n.-53T>C
NM_001979.6:c.107T>C MANE Select	NP_001970.2:p.Leu36Pro