Canonical Allele Identifier: CA216939543

Gene: EPS8L2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.721318G>A , CM000673.2:g.721318G>A	GRCh38
NC_000011.9:g.721318G>A , CM000673.1:g.721318G>A	GRCh37
NC_000011.8:g.711318G>A	NCBI36
NG_051601.1:g.21102G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318562.13:c.734G>A MANE Select	ENSP00000320828.8:p.Arg245Gln
ENST00000650127.1:c.734G>A	ENSP00000497389.1:p.Arg245Gln
ENST00000318562.12:c.734G>A	ENSP00000320828.8:p.Arg245Gln
ENST00000524474.5:n.398G>A
ENST00000526198.5:c.782G>A	ENSP00000436230.1:p.Arg261Gln
ENST00000526651.5:n.222G>A
ENST00000526909.5:c.*1439G>A	ENSP00000433173.1:n.*1439G>A
ENST00000528770.5:c.166G>A
ENST00000529346.5:n.946G>A
ENST00000530452.6:c.156G>A
ENST00000530636.5:c.734G>A	ENSP00000436035.1:p.Arg245Gln
ENST00000531471.1:n.347G>A
ENST00000532545.1:n.149G>A
ENST00000533256.5:c.734G>A	ENSP00000435585.1:p.Arg245Gln
ENST00000533816.1:n.37G>A
ENST00000614442.4:c.782G>A	ENSP00000480201.1:p.Arg261Gln
NM_022772.3:c.734G>A	NP_073609.2:p.Arg245Gln
XM_017018131.1:c.734G>A	XP_016873620.1:p.Arg245Gln
XM_017018132.1:c.734G>A	XP_016873621.1:p.Arg245Gln
NM_022772.4:c.734G>A MANE Select	NP_073609.2:p.Arg245Gln