Canonical Allele Identifier: CA4689907
Gene: EPHX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3059509
ClinVar RCV Id: RCV003974480
dbSNP Id: rs41507953
ExAC: 8:27358505 A / G
gnomAD v2: 8-27358505-A-G
gnomAD v3: 8-27500988-A-G
gnomAD v4: 8-27500988-A-G
MyVariant Identifiers: chr8:g.27358505A>G (hg19) chr8:g.27500988A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27500988A>G , CM000670.2:g.27500988A>G GRCh38
NC_000008.10:g.27358505A>G , CM000670.1:g.27358505A>G GRCh37
NC_000008.9:g.27414422A>G NCBI36
NG_012064.1:g.14861A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000521400.6:c.164A>G MANE Select ENSP00000430269.1:p.Lys55Arg
ENST00000380476.7:c.5A>G ENSP00000369843.3:p.Lys2Arg
ENST00000517536.5:c.164A>G ENSP00000428875.1:p.Lys55Arg
ENST00000518328.5:c.164A>G ENSP00000430779.1:p.Lys55Arg
ENST00000518379.5:c.164A>G ENSP00000427956.1:p.Lys55Arg
ENST00000520623.5:n.248A>G
ENST00000520666.1:n.176A>G
ENST00000521400.5:c.164A>G ENSP00000430269.1:p.Lys55Arg
ENST00000521684.1:c.163A>G
ENST00000521780.5:c.-12-2616A>G ENSP00000430302.1:n.-12-2616A>G
ENST00000523827.1:n.387A>G
NM_001256482.1:c.5A>G NP_001243411.1:p.Lys2Arg
NM_001256483.1:c.-12-2616A>G NP_001243412.1:n.-12-2616A>G
NM_001256484.1:c.5A>G NP_001243413.1:p.Lys2Arg
NM_001979.5:c.164A>G NP_001970.2:p.Lys55Arg
XM_017013199.1:c.164A>G XP_016868688.1:p.Lys55Arg
XM_017013200.1:c.164A>G XP_016868689.1:p.Lys55Arg
XR_001745491.1:n.222A>G
NM_001256482.2:c.5A>G NP_001243411.1:p.Lys2Arg
NM_001256483.2:c.-12-2616A>G NP_001243412.1:n.-12-2616A>G
NM_001256484.2:c.5A>G NP_001243413.1:p.Lys2Arg
NM_001979.6:c.164A>G MANE Select NP_001970.2:p.Lys55Arg
Search 100 bp 5'
Search 100 bp 3'