Canonical Allele Identifier: CA174228333

Gene: EPHX2

Linked Data

• dbSNP Id: rs191387678
• gnomAD v2: 8-27358641-C-A
• gnomAD v3: 8-27501124-C-A
• gnomAD v4: 8-27501124-C-A
• MyVariant Identifiers: chr8:g.27358641C>A (hg19) ; chr8:g.27501124C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27501124C>A , CM000670.2:g.27501124C>A	GRCh38
NC_000008.10:g.27358641C>A , CM000670.1:g.27358641C>A	GRCh37
NC_000008.9:g.27414558C>A	NCBI36
NG_012064.1:g.14997C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521400.6:c.186+114C>A MANE Select	ENSP00000430269.1:n.186+114C>A
ENST00000380476.7:c.27+114C>A	ENSP00000369843.3:n.27+114C>A
ENST00000517536.5:c.186+114C>A	ENSP00000428875.1:n.186+114C>A
ENST00000518328.5:c.186+114C>A	ENSP00000430779.1:n.186+114C>A
ENST00000518379.5:c.186+114C>A	ENSP00000427956.1:n.186+114C>A
ENST00000520623.5:n.270+114C>A
ENST00000520666.1:n.198+114C>A
ENST00000521400.5:c.186+114C>A	ENSP00000430269.1:n.186+114C>A
ENST00000521684.1:c.185+114C>A
ENST00000521780.5:c.-12-2480C>A	ENSP00000430302.1:n.-12-2480C>A
ENST00000523827.1:n.409+114C>A
NM_001256482.1:c.27+114C>A	NP_001243411.1:n.27+114C>A
NM_001256483.1:c.-12-2480C>A	NP_001243412.1:n.-12-2480C>A
NM_001256484.1:c.27+114C>A	NP_001243413.1:n.27+114C>A
NM_001979.5:c.186+114C>A	NP_001970.2:n.186+114C>A
XM_017013199.1:c.186+114C>A	XP_016868688.1:n.186+114C>A
XM_017013200.1:c.186+114C>A	XP_016868689.1:n.186+114C>A
XR_001745491.1:n.244+114C>A
NM_001256482.2:c.27+114C>A	NP_001243411.1:n.27+114C>A
NM_001256483.2:c.-12-2480C>A	NP_001243412.1:n.-12-2480C>A
NM_001256484.2:c.27+114C>A	NP_001243413.1:n.27+114C>A
NM_001979.6:c.186+114C>A MANE Select	NP_001970.2:n.186+114C>A