Canonical Allele Identifier: CA580663026

Gene: EPHX2

Linked Data

• dbSNP Id: rs1303809489
• gnomAD v2: 8-27358622-C-T
• MyVariant Identifiers: chr8:g.27358622C>T (hg19) ; chr8:g.27501105C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27501105C>T , CM000670.2:g.27501105C>T	GRCh38
NC_000008.10:g.27358622C>T , CM000670.1:g.27358622C>T	GRCh37
NC_000008.9:g.27414539C>T	NCBI36
NG_012064.1:g.14978C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521400.6:c.186+95C>T MANE Select	ENSP00000430269.1:n.186+95C>T
ENST00000380476.7:c.27+95C>T	ENSP00000369843.3:n.27+95C>T
ENST00000517536.5:c.186+95C>T	ENSP00000428875.1:n.186+95C>T
ENST00000518328.5:c.186+95C>T	ENSP00000430779.1:n.186+95C>T
ENST00000518379.5:c.186+95C>T	ENSP00000427956.1:n.186+95C>T
ENST00000520623.5:n.270+95C>T
ENST00000520666.1:n.198+95C>T
ENST00000521400.5:c.186+95C>T	ENSP00000430269.1:n.186+95C>T
ENST00000521684.1:c.185+95C>T
ENST00000521780.5:c.-12-2499C>T	ENSP00000430302.1:n.-12-2499C>T
ENST00000523827.1:n.409+95C>T
NM_001256482.1:c.27+95C>T	NP_001243411.1:n.27+95C>T
NM_001256483.1:c.-12-2499C>T	NP_001243412.1:n.-12-2499C>T
NM_001256484.1:c.27+95C>T	NP_001243413.1:n.27+95C>T
NM_001979.5:c.186+95C>T	NP_001970.2:n.186+95C>T
XM_017013199.1:c.186+95C>T	XP_016868688.1:n.186+95C>T
XM_017013200.1:c.186+95C>T	XP_016868689.1:n.186+95C>T
XR_001745491.1:n.244+95C>T
NM_001256482.2:c.27+95C>T	NP_001243411.1:n.27+95C>T
NM_001256483.2:c.-12-2499C>T	NP_001243412.1:n.-12-2499C>T
NM_001256484.2:c.27+95C>T	NP_001243413.1:n.27+95C>T
NM_001979.6:c.186+95C>T MANE Select	NP_001970.2:n.186+95C>T