Canonical Allele Identifier: CA5786988

Gene: EPS8L2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.709567G>A , CM000673.2:g.709567G>A	GRCh38
NC_000011.9:g.709567G>A , CM000673.1:g.709567G>A	GRCh37
NC_000011.8:g.699567G>A	NCBI36
NG_051601.1:g.9351G>A
NG_034156.2:g.2517C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318562.13:c.59G>A MANE Select	ENSP00000320828.8:p.Arg20Gln
ENST00000650127.1:c.59G>A	ENSP00000497389.1:p.Arg20Gln
ENST00000318562.12:c.59G>A	ENSP00000320828.8:p.Arg20Gln
ENST00000524763.5:c.59G>A	ENSP00000435128.1:p.Arg20Gln
ENST00000526198.5:c.59G>A	ENSP00000436230.1:p.Arg20Gln
ENST00000526380.1:n.323G>A
ENST00000526909.5:c.59G>A	ENSP00000433173.1:p.Arg20Gln
ENST00000527199.5:c.59G>A	ENSP00000437085.1:p.Arg20Gln
ENST00000527807.5:n.184G>A
ENST00000529346.5:n.223G>A
ENST00000529680.5:n.323G>A
ENST00000530093.5:n.195G>A
ENST00000530118.1:n.8G>A
ENST00000530636.5:c.59G>A	ENSP00000436035.1:p.Arg20Gln
ENST00000531348.5:c.59G>A	ENSP00000432765.1:p.Arg20Gln
ENST00000533256.5:c.59G>A	ENSP00000435585.1:p.Arg20Gln
ENST00000533500.5:c.59G>A	ENSP00000433223.1:p.Arg20Gln
ENST00000534755.5:c.59G>A	ENSP00000432923.1:p.Arg20Gln
ENST00000614442.4:c.59G>A	ENSP00000480201.1:p.Arg20Gln
NM_022772.3:c.59G>A	NP_073609.2:p.Arg20Gln
XM_017018131.1:c.59G>A	XP_016873620.1:p.Arg20Gln
XM_017018132.1:c.59G>A	XP_016873621.1:p.Arg20Gln
NM_022772.4:c.59G>A MANE Select	NP_073609.2:p.Arg20Gln